Iron Handling and Storage Pathway | Genes and Biomarkers

What this pathway does

The pathway regulates iron sensing, storage, transport, and hepcidin signaling so iron status remains usable rather than just present on paper.

Why it matters

It matters because ferritin, saturation, and CBC patterns can look misleading when inflammation and iron genetics overlap.

What creates pressure on this pathway

distorted iron storage or hepcidin signaling
weaker iron availability despite apparently simple intake or ferritin stories

Validation markers to consider

ferritin
iron saturation
CBC context

Genes and SNPs connected to this pathway

Iron helps your blood carry oxygen. Too little can leave you tired and weak. Too much can also be a problem because the body has limited ways to get rid of extra iron.

Study rows support the SNP/gene claim. The pathway connection comes from the curated gene-to-pathway map.

What may run higher

Your iron blood tests may come back above the healthy range. This is something to check, not guess.

What may work more slowly

Your iron blood tests may come back below the healthy range. This can matter for energy, exercise, and weakness.

What to check next

Check ferritin, transferrin saturation, serum iron, TIBC, CBC, MCV, CRP context, and liver enzymes.

8mapped genes

13mapped SNPs

52SNP/gene claims

16report eligible

HFE2 SNPs - 6 claimsShow SNPs

Open gene page

rs17999453 claims - 9 study rows

biomarker tendency - GG

HFE biomarker tendency

Moderate

rs1799945 GG is associated with increased HFE biomarker tendency.

HFE rs1799945 is scored as a small tendency toward higher iron-related biomarkers when the G allele is present, with the largest simplified score for GG.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799945 in HFE and annotates the common G allele as NM_000410.4:c.187C>G, a His63Asp missense change. This supports scoring G-containing genotypes as the H63D coding-change genotypes for this simplified record.PubMed 14648375biomarker association - close proxyA first-time blood donor study genotyped HFE C282Y and H63D and compared ferritin and transferrin saturation with matched controls. The study found clearer transferrin-saturation elevation for C282Y-containing genotypes than for H63D alone, supporting only a small iron-biomarker tendency for rs1799945 by itself.PubMed 24729993biomarker association - close proxyA study focused on H63D homozygotes concluded that H63D may relate to altered iron indexes, but the penetrance for iron-overload-related disease is low. This supports a low-magnitude, modest-certainty biomarker score for GG rather than a strong clinical interpretation.

biomarker tendency - CG

HFE biomarker tendency

Not used for pathway scoring

rs1799945 CG is associated with increased HFE biomarker tendency.

HFE rs1799945 is scored as a small tendency toward higher iron-related biomarkers when the G allele is present, with the largest simplified score for GG.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799945 in HFE and annotates the common G allele as NM_000410.4:c.187C>G, a His63Asp missense change. This supports scoring G-containing genotypes as the H63D coding-change genotypes for this simplified record.PubMed 14648375biomarker association - close proxyA first-time blood donor study genotyped HFE C282Y and H63D and compared ferritin and transferrin saturation with matched controls. The study found clearer transferrin-saturation elevation for C282Y-containing genotypes than for H63D alone, supporting only a small iron-biomarker tendency for rs1799945 by itself.PubMed 24729993biomarker association - close proxyA study focused on H63D homozygotes concluded that H63D may relate to altered iron indexes, but the penetrance for iron-overload-related disease is low. This supports a low-magnitude, modest-certainty biomarker score for GG rather than a strong clinical interpretation.

biomarker tendency - CC

HFE biomarker tendency

Not used for pathway scoring

rs1799945 CC has no scored directional claim for HFE biomarker tendency.

HFE rs1799945 is scored as a small tendency toward higher iron-related biomarkers when the G allele is present, with the largest simplified score for GG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799945 in HFE and annotates the common G allele as NM_000410.4:c.187C>G, a His63Asp missense change. This supports scoring G-containing genotypes as the H63D coding-change genotypes for this simplified record.PubMed 14648375biomarker association - close proxyA first-time blood donor study genotyped HFE C282Y and H63D and compared ferritin and transferrin saturation with matched controls. The study found clearer transferrin-saturation elevation for C282Y-containing genotypes than for H63D alone, supporting only a small iron-biomarker tendency for rs1799945 by itself.PubMed 24729993biomarker association - close proxyA study focused on H63D homozygotes concluded that H63D may relate to altered iron indexes, but the penetrance for iron-overload-related disease is low. This supports a low-magnitude, modest-certainty biomarker score for GG rather than a strong clinical interpretation.

rs18005623 claims - 9 study rows

biomarker tendency - AA

HFE biomarker tendency

Strong

rs1800562 AA is associated with increased HFE biomarker tendency.

HFE rs1800562 is scored as a higher iron-biomarker tendency when the A allele is present, strongest for AA and smaller for AG.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1800562 in HFE and annotates the common A allele as NM_000410.4:c.845G>A, a Cys282Tyr missense change. This supports scoring A-containing genotypes as the C282Y coding-change genotypes for this simplified record.PMC8394043biomarker association - close proxyIn a referred hyperferritinemia cohort, C282Y homozygotes showed the clearest hemochromatosis-like biochemical pattern, including high median transferrin saturation and higher ferritin in men compared with other HFE genotypes. This supports a strong higher iron-biomarker tendency for AA.PubMed 14648375biomarker association - close proxyA first-time blood donor study found transferrin saturation was elevated in C282Y heterozygotes compared with wild-type controls. This supports a smaller higher iron-biomarker tendency for AG than for AA.

biomarker tendency - AG

HFE biomarker tendency

Moderate

rs1800562 AG is associated with increased HFE biomarker tendency.

HFE rs1800562 is scored as a higher iron-biomarker tendency when the A allele is present, strongest for AA and smaller for AG.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1800562 in HFE and annotates the common A allele as NM_000410.4:c.845G>A, a Cys282Tyr missense change. This supports scoring A-containing genotypes as the C282Y coding-change genotypes for this simplified record.PMC8394043biomarker association - close proxyIn a referred hyperferritinemia cohort, C282Y homozygotes showed the clearest hemochromatosis-like biochemical pattern, including high median transferrin saturation and higher ferritin in men compared with other HFE genotypes. This supports a strong higher iron-biomarker tendency for AA.PubMed 14648375biomarker association - close proxyA first-time blood donor study found transferrin saturation was elevated in C282Y heterozygotes compared with wild-type controls. This supports a smaller higher iron-biomarker tendency for AG than for AA.

biomarker tendency - GG

HFE biomarker tendency

Not used for pathway scoring

rs1800562 GG has no scored directional claim for HFE biomarker tendency.

HFE rs1800562 is scored as a higher iron-biomarker tendency when the A allele is present, strongest for AA and smaller for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1800562 in HFE and annotates the common A allele as NM_000410.4:c.845G>A, a Cys282Tyr missense change. This supports scoring A-containing genotypes as the C282Y coding-change genotypes for this simplified record.PMC8394043biomarker association - close proxyIn a referred hyperferritinemia cohort, C282Y homozygotes showed the clearest hemochromatosis-like biochemical pattern, including high median transferrin saturation and higher ferritin in men compared with other HFE genotypes. This supports a strong higher iron-biomarker tendency for AA.PubMed 14648375biomarker association - close proxyA first-time blood donor study found transferrin saturation was elevated in C282Y heterozygotes compared with wild-type controls. This supports a smaller higher iron-biomarker tendency for AG than for AA.

TF2 SNPs - 12 claimsShow SNPs

Open gene page

rs17998526 claims - 18 study rows

biomarker tendency - TT

TF biomarker tendency

Moderate

rs1799852 TT is associated with reduced TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

biomarker tendency - CT

TF biomarker tendency

Not used for pathway scoring

rs1799852 CT is associated with reduced TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

biomarker tendency - AA

TF biomarker tendency

Not used for pathway scoring

rs1799852 AA has no scored directional claim for TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

biomarker tendency - AC

TF biomarker tendency

Not used for pathway scoring

rs1799852 AC has no scored directional claim for TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

biomarker tendency - AT

TF biomarker tendency

Not used for pathway scoring

rs1799852 AT has no scored directional claim for TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

biomarker tendency - CC

TF biomarker tendency

Not used for pathway scoring

rs1799852 CC has no scored directional claim for TF biomarker tendency.

TF rs1799852 is scored as a modest tendency toward lower serum transferrin for T-containing C/T genotypes, strongest for TT.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs1799852 in TF and lists C, A, and T alleles. The T allele is annotated as a synonymous TF coding change in the shown transcripts, while the A allele is a rarer missense annotation; this supports treating the file as a transferrin biomarker-tendency record rather than an enzyme-activity record.PMC2668053gwas - close proxyA genome-wide study of iron markers reported rs1799852 as one of the independent TF variants explaining serum transferrin variation. This supports a cautious serum-transferrin tendency for the source-supported T allele.PMC3195693biomarker association - close proxyAn association study in menstruating women reported that the T allele of rs1799852 had a reducing effect on serum transferrin levels. This supports lower biomarker-tendency scoring for CT and TT genotypes, with TT kept cautious because the study did not observe that genotype.

rs38116476 claims - 18 study rows

biomarker tendency - AA

TF biomarker tendency

Strong

rs3811647 AA is associated with increased TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

biomarker tendency - AG

TF biomarker tendency

Moderate

rs3811647 AG is associated with increased TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

biomarker tendency - AC

TF biomarker tendency

Not used for pathway scoring

rs3811647 AC has no scored directional claim for TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

biomarker tendency - CC

TF biomarker tendency

Not used for pathway scoring

rs3811647 CC has no scored directional claim for TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

biomarker tendency - CG

TF biomarker tendency

Not used for pathway scoring

rs3811647 CG has no scored directional claim for TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

biomarker tendency - GG

TF biomarker tendency

Not used for pathway scoring

rs3811647 GG has no scored directional claim for TF biomarker tendency.

For common A/G calls, rs3811647 is scored as a tendency toward higher transferrin-related iron biomarkers with more A copies: AA strongest, AG intermediate, and GG not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data place rs3811647 in TF, the transferrin gene, and list A, C, and G as observed letters for this marker.PMC2668053gwas - close proxyBenyamin and colleagues reported that rs3811647 in TF was strongly associated with serum transferrin in a genome-wide study, with each A allele increasing serum transferrin in an additive model. The effect on transferrin saturation and ferritin was much smaller.Evidence 3gwas - close proxyAn independent iron-deficiency GWAS replicated an association between rs3811647 in the TF gene and total iron-binding capacity, supporting a transferrin-related biomarker tendency rather than a disease diagnosis.

TMPRSS63 SNPs - 21 claimsShow SNPs

Open gene page

rs22353211 claims - 3 study rows

biomarker tendency - AG

serum hepcidin tendency

Moderate

rs2235321 AG carries one A allele in TMPRSS6 and is associated with lower serum hepcidin tendency.

TMPRSS6 rs2235321 AG is staged as a modest lower-hepcidin biomarker genotype relevant to iron restriction and iron response context.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP identity was checked to confirm rs2235321 labels and observed alleles at the TMPRSS6 locus. This row contributes no directional score.Jallow et al. 2021 Scientific Reportsbiomarker association - directIn 1,316 healthy rural Gambian participants, rs2235321 AA was associated with lower plasma hepcidin than GG after adjustment for inflammation, age, and sex; the authors reported about 19% lower hepcidin in AA and an approximate 9.5% single-allele effect, while other iron markers were not materially affected.Jallow et al. 2021 Current Developments in Nutritionbiomarker association - directA recall-by-genotype oral iron study in healthy Gambian adults reported higher baseline hepcidin in rs2235321 GG than AA participants and no clear difference in plasma iron response after oral iron. This supports a lower-hepcidin tendency for A while keeping the claim limited to hepcidin context.

rs482026810 claims - 30 study rows

biomarker tendency - GG

TMPRSS6 biomarker tendency

Moderate

rs4820268 GG is associated with reduced TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - AG

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 AG is associated with reduced TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - AA

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 AA has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - AC

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 AC has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - AT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 AT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - CC

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 CC has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - CG

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 CG has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - CT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 CT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - GT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 GT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

biomarker tendency - TT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs4820268 TT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs4820268 is scored as a tendency toward lower iron-status biomarkers for the common G allele, strongest for GG and weaker for AG.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs4820268 in TMPRSS6 and lists A, C, G, and T as observed letters on the preferred genomic placement. This supports using the current dbSNP genotype letters and treating non-A/G calls cautiously.PMC3043660gwas - close proxyA human iron-status meta-analysis and replication study reported that rs4820268 in TMPRSS6 was associated with iron-related markers. Compared with AA, GG was associated with lower serum iron, hemoglobin, MCV, and MCH and higher transferrin-related markers; hepcidin mRNA and urinary hepcidin results were borderline and need cautious interpretation.PubMed 38341535biomarker association - loose proxyA smaller pediatric pilot study reported that rs4820268 GG had the highest hepcidin gene-expression fold and the lowest serum ferroportin and iron-store measures compared with AA and AG. This supports a conservative lower iron-status biomarker tendency for GG, while keeping the heterozygote effect smaller.

rs85579110 claims - 30 study rows

biomarker tendency - AA

TMPRSS6 biomarker tendency

Moderate

rs855791 AA is associated with reduced TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - AG

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 AG is associated with reduced TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectLower biomarker tendency

Signal sizeMinimal signal

Evidence supportModerate support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - AC

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 AC has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - AT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 AT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - CC

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 CC has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - CG

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 CG has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - CT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 CT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - GG

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 GG has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - GT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 GT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

biomarker tendency - TT

TMPRSS6 biomarker tendency

Not used for pathway scoring

rs855791 TT has no scored directional claim for TMPRSS6 biomarker tendency.

TMPRSS6 rs855791 is scored as a modest tendency toward lower iron-related blood biomarkers for common A-containing genotypes, strongest for AA and weaker for AG. Genotypes containing rarer C or T letters are left unscored because the public evidence does not support a simple end-user direction for them.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP data identify rs855791 as a TMPRSS6 coding missense variant and list A, C, G, and T as observed genomic letters. This supports a TMPRSS6 biomarker-tendency record with neutral handling for rare letters that lack clear end-user evidence.PubMed 19820698gwas - close proxyA genome-wide association study reported rs855791 as the strongest TMPRSS6 signal for hemoglobin, with lower hemoglobin per copy of the A allele. This supports a conservative lower iron-related biomarker tendency for common A-containing genotypes.PubMed 19820699gwas - close proxyAn independent genome-wide study associated rs855791 in TMPRSS6 with serum iron, transferrin saturation, erythrocyte mean cell volume, and suggestive hemoglobin differences. This supports interpreting the score as an iron-related biomarker tendency rather than a diagnosis.

CRP1 SNPs - 3 claimsShow SNPs

Open gene page

rs12053 claims - 9 study rows

biomarker tendency - TT

CRP biomarker tendency

Strong

rs1205 TT is associated with reduced CRP biomarker tendency.

CRP rs1205 is scored as a lower circulating C-reactive-protein biomarker tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP maps rs1205 to CRP and lists C and T as observed letters. CRP encodes C-reactive protein, so this record is framed as a CRP biomarker tendency rather than enzyme or transport activity.PMC11045144biomarker association - close proxyThis open-access Strong Heart Study report describes rs1205 as a C/T variant in the 3' untranslated region of CRP and summarizes prior evidence that each additional T allele is consistently associated with lower serum CRP. This supports lower CRP biomarker tendency for T-containing genotypes.PubMed 21300955gwas - close proxyA large meta-analysis of genome-wide association studies in more than 80,000 participants identified CRP-region variants among the loci associated with circulating C-reactive protein levels. This supports treating rs1205 as part of a biomarker tendency, not as a standalone disease result.

biomarker tendency - CT

CRP biomarker tendency

Moderate

rs1205 CT is associated with reduced CRP biomarker tendency.

CRP rs1205 is scored as a lower circulating C-reactive-protein biomarker tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectLower biomarker tendency

Signal sizeSmall signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP maps rs1205 to CRP and lists C and T as observed letters. CRP encodes C-reactive protein, so this record is framed as a CRP biomarker tendency rather than enzyme or transport activity.PMC11045144biomarker association - close proxyThis open-access Strong Heart Study report describes rs1205 as a C/T variant in the 3' untranslated region of CRP and summarizes prior evidence that each additional T allele is consistently associated with lower serum CRP. This supports lower CRP biomarker tendency for T-containing genotypes.PubMed 21300955gwas - close proxyA large meta-analysis of genome-wide association studies in more than 80,000 participants identified CRP-region variants among the loci associated with circulating C-reactive protein levels. This supports treating rs1205 as part of a biomarker tendency, not as a standalone disease result.

biomarker tendency - CC

CRP biomarker tendency

Not used for pathway scoring

rs1205 CC has no scored directional claim for CRP biomarker tendency.

CRP rs1205 is scored as a lower circulating C-reactive-protein biomarker tendency for T-containing genotypes, strongest for TT and intermediate for CT.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP maps rs1205 to CRP and lists C and T as observed letters. CRP encodes C-reactive protein, so this record is framed as a CRP biomarker tendency rather than enzyme or transport activity.PMC11045144biomarker association - close proxyThis open-access Strong Heart Study report describes rs1205 as a C/T variant in the 3' untranslated region of CRP and summarizes prior evidence that each additional T allele is consistently associated with lower serum CRP. This supports lower CRP biomarker tendency for T-containing genotypes.PubMed 21300955gwas - close proxyA large meta-analysis of genome-wide association studies in more than 80,000 participants identified CRP-region variants among the loci associated with circulating C-reactive protein levels. This supports treating rs1205 as part of a biomarker tendency, not as a standalone disease result.

TFR22 SNPs - 7 claimsShow SNPs

Open gene page

rs73858046 claims - 18 study rows

biomarker tendency - AA

TFR2 biomarker tendency

Moderate

rs7385804 AA is associated with increased TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useIncluded in pathway scoring

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency - AC

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 AC is associated with increased TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectHigher biomarker tendency

Signal sizeSmall signal

Evidence supportModerate support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency - AG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 AG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency - CC

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 CC has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency - CG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 CG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

biomarker tendency - GG

TFR2 biomarker tendency

Not used for pathway scoring

rs7385804 GG has no scored directional claim for TFR2 biomarker tendency.

For common A/C calls, rs7385804 is scored as a small tendency toward higher serum iron with more A copies: AA strongest, AC intermediate, and CC not scored as increased.

Likely effectNo clear biomarker tendency

Signal sizeMinimal signal

Evidence supportVery limited support

Report useEvidence only, not scored

Show study evidence

NCBI RefSNP recordidentity only - unknownNCBI RefSNP places rs7385804 in TFR2 and lists A, C, and a rare G observation for this marker. The common A/C contrast is the source-supported comparison used for the scored genotypes.PubMed 21208937gwas - loose proxyA genome-wide study of iron markers identified rs7385804 in TFR2 as associated with serum iron levels, with the A allele associated with a small increase in serum iron in an additive model. The study also reported association with TFR2 mRNA expression in human liver samples.PubMed 27332551biomarker association - close proxyAn independent study of iron-related genes in populations of African ancestry discussed rs7385804 in TFR2 among iron-homeostasis variants, supporting that this marker belongs in an iron-biomarker context while keeping the effect interpretation conservative.

rs803388801 claims - 2 study rows

biomarker tendency - CC or compound-heterozygous TFR2 deficiency context

TFR2 hepcidin-linked iron sensing tendency

Strong

rs80338880 C, corresponding to TFR2 c.750C>G / p.Tyr250Ter in transcript orientation, is associated with lower TFR2 hepcidin-linked iron sensing tendency in recessive or compound-heterozygous hemochromatosis contexts.

TFR2 rs80338880 C is staged as the forward-genomic recessive truncating type 3 hemochromatosis allele affecting hepcidin-regulated iron sensing.

Likely effectLower biomarker tendency

Signal sizeModerate signal

Evidence supportStrong support

Report useIncluded in pathway scoring

Show study evidence

ClinVar Variation 5380clinical curation - directClinVar maps rs80338880 to TFR2 c.750C>G / p.Tyr250Ter and classifies it in hemochromatosis type 3.GeneReviews NBK1349clinical curation - directGeneReviews supports TFR2-related hemochromatosis as deregulated increased intestinal iron absorption with iron accumulation, matching transferrin-saturation and ferritin pathway targets.

HAMP1 SNPs - 1 claimsShow SNPs

Open gene page

rs1048946951 claims - 2 study rows

biomarker tendency - TT or compound-heterozygous HAMP deficiency context

Hepcidin peptide production tendency

Strong

rs104894695 T / HAMP p.Arg56Ter is associated with lower hepcidin peptide production tendency in recessive or compound-heterozygous juvenile hemochromatosis contexts.

HAMP rs104894695 T is staged as a recessive hepcidin-truncating allele affecting systemic iron absorption control.

Likely effectLower biomarker tendency

Signal sizeLarge signal

Evidence supportStrong support

Report useIncluded in pathway scoring

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ClinVar RCV000004505clinical curation - directClinVar maps rs104894695 to HAMP c.166C>T / p.Arg56Ter and describes truncation before the mature hepcidin peptide sequence in juvenile hemochromatosis.GeneReviews NBK1170clinical curation - directGeneReviews supports HAMP-related juvenile hemochromatosis as severe iron overload caused by hepcidin-pathway deficiency; this row provides HAMP-specific clinical context and avoids the non-HAMP pedigree source.

HJV1 SNPs - 1 claimsShow SNPs

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rs743153231 claims - 2 study rows

biomarker tendency - AA or compound-heterozygous HJV deficiency context

HJV hepcidin signaling tendency

Strong

rs74315323 A, corresponding to HJV c.959G>T / p.Gly320Val in transcript orientation, is associated with lower HJV hepcidin signaling tendency in recessive or compound-heterozygous juvenile hemochromatosis contexts.

HJV rs74315323 A is staged as the forward-genomic recurrent recessive juvenile-hemochromatosis allele affecting hepcidin-upstream iron regulation.

Likely effectLower biomarker tendency

Signal sizeModerate signal

Evidence supportStrong support

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ClinVar Variation 2365clinical curation - directClinVar maps rs74315323 to HJV c.959G>T / p.Gly320Val and classifies it for juvenile hemochromatosis, with submitter summaries noting impaired hemojuvelin function and iron homeostasis regulation.GeneReviews NBK1170clinical curation - directGeneReviews supports HJV-related hemochromatosis as early-onset severe iron overload caused by impaired hepcidin pathway regulation.

SLC40A11 SNPs - 1 claimsShow SNPs

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rs115683501 claims - 2 study rows

transport activity - A

hepcidin-resistant ferroportin tendency

Moderate

rs11568350 A / SLC40A1 Q248H is associated with higher hepcidin-resistant ferroportin persistence tendency at physiological hepcidin concentrations.

SLC40A1 rs11568350 A is staged as a ferroportin Q248H iron-export regulation allele.

Likely effectHigher transport signal

Signal sizeSmall signal

Evidence supportModerate support

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PMCID PMC3659936functional assay - directThe checked functional source identifies Q248H / rs11568350 and reports reduced sensitivity of ferroportin Q248H to physiological hepcidin concentrations, supporting hepcidin-resistant ferroportin persistence.ClinVar rs11568350identity only - unknownClinVar/dbSNP identity was checked to confirm rs11568350 maps to SLC40A1 c.744G>T / p.Gln248His with GRCh38 genomic C>A representation; it is not used as scoring evidence.

Where DNA analysis helps

DNA helps decide whether iron handling deserves its own review instead of staying hidden under generic fatigue or inflammation language.

Example interpretation

Iron handling may deserve dedicated follow-up when fatigue and inflammatory context make ferritin harder to read directly.

Suggested validation: ferritin plus saturation and CBC context.

What to do next

use ferritin together with saturation and CBC context before jumping to simple iron conclusions
compare HFE, TMPRSS6, and TFR2 before assuming storage and transport mean the same thing

Iron Handling and Storage Pathway: Why Ferritin Alone Can Mislead

What this pathway does

Why it matters

What creates pressure on this pathway

Validation markers to consider

Genes and SNPs connected to this pathway

What may run higher

What may work more slowly

What to check next

HFE biomarker tendency

HFE biomarker tendency

HFE biomarker tendency

HFE biomarker tendency

HFE biomarker tendency

HFE biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

TF biomarker tendency

serum hepcidin tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

TMPRSS6 biomarker tendency

CRP biomarker tendency

CRP biomarker tendency

CRP biomarker tendency

TFR2 biomarker tendency

TFR2 biomarker tendency

TFR2 biomarker tendency

TFR2 biomarker tendency

TFR2 biomarker tendency

TFR2 biomarker tendency

TFR2 hepcidin-linked iron sensing tendency

Hepcidin peptide production tendency

HJV hepcidin signaling tendency

hepcidin-resistant ferroportin tendency

Where DNA analysis helps

Example interpretation

What to do next

Related pages

HFE

TMPRSS6

Low energy

Ferritin and iron storage

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Best DNA test for metabolism

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