rs855791
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;T) | 0.1 g/dL lower hemoglobin on average | |
| (T;T) | 0 | 0.2 g/dL lower hemoglobin on average |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 37066896 |
| Gene | TMPRSS6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs855791 |
| dbSNP (classic) | rs855791 |
| ClinGen | rs855791 |
| ebi | rs855791 |
| HLI | rs855791 |
| Exac | rs855791 |
| Gnomad | rs855791 |
| Varsome | rs855791 |
| LitVar | rs855791 |
| Map | rs855791 |
| PheGenI | rs855791 |
| Biobank | rs855791 |
| 1000 genomes | rs855791 |
| hgdp | rs855791 |
| ensembl | rs855791 |
| geneview | rs855791 |
| scholar | rs855791 |
| rs855791 | |
| pharmgkb | rs855791 |
| gwascentral | rs855791 |
| openSNP | rs855791 |
| 23andMe | rs855791 |
| SNPshot | rs855791 |
| SNPdbe | rs855791 |
| MSV3d | rs855791 |
| GWAS Ctlg | rs855791 |
| GMAF | 0.3981 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs855791, also known as V736A, is a SNP in the transmembrane protease, serine 6 TMPRSS6 gene.
2 studies totaling over 17,000 individuals have linked this SNP to various blood parameters, including iron status, erythrocyte volume, and hemoglobin levels.[PMID 19820699, PMID 19820698]
23andMe blog each rs855791(T) and each rs198846(G) led to an approximately 0.1 gram per deciliter (g/dL) decrease in hemoglobin levels. rs1799945(C) is a proxy for rs198846(G).
| GWAS snp | |
|---|---|
| PMID | [PMID 19862010 ]
|
| Trait | Hemoglobin |
| Title | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium |
| Risk Allele | A |
| P-val | 3E-25 |
| Odds Ratio | 0.09 [0.07-0.11] g/dl decrease |
[PMID 20858683] Common variants at ten genomic loci influence hemoglobin A1C levels via glycemic and non-glycemic pathways
| GWAS snp | |
|---|---|
| PMID | [PMID 20927387]
|
| Trait | |
| Title | A genome-wide association study of red blood cell traits using the electronic medical record |
| Risk Allele | A |
| P-val | 1E-12 |
| Odds Ratio | 0.29 [0.21-0.37] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 21149283]
|
| Trait | |
| Title | Novel Association to the Proprotein Convertase PCSK7 Gene Locus Revealed by Analysing Soluble Transferrin Receptor (sTfR) Levels |
| Risk Allele | A |
| P-val | 2E-15 |
| Odds Ratio | 0.0190 [0.015-0.023] unit increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 21785125] |
| Trait | |
| Title | Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. |
| Risk Allele | |
| P-val | 5E-7 |
| Odds Ratio | 0.1870 [0.12-0.26] ng/ml decrease |
[PMID 21873547] TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals.
[PMID 22815867] Genetic Determinants for Body Iron Store and Type 2 Diabetes Risk in US Men and Women
[PMID 21115529] Genetics and genomics of human ageing.
[PMID 22301935] Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population.
[PMID 22323359] TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.
| GWAS snp | |
|---|---|
| PMID | [PMID 23263863]
|
| Trait | Hematology traits |
| Title | GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. |
| Risk Allele | T |
| P-val | 3E-8 |
| Odds Ratio | .09 [0.058-0.121] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 23222517]
|
| Trait | Red blood cell traits |
| Title | Seventy-five genetic loci influencing the human red blood cell. |
| Risk Allele | G |
| P-val | 1E-69 |
| Odds Ratio | .01 [0.0042-0.0198] unit increase |
[PMID 22885719] Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis.
[PMID 23092954] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
[PMID 23794717] Associations of common variants in HFE and TMPRSS6 with iron parameters are independent of serum hepcidin in a general population: a replication study.
[PMID 24782651] TMPRSS6 rs855791 Polymorphism Influences the Susceptibility to Iron Deficiency Anemia in Women at Reproductive Age
[PMID 24801367] A candidate gene approach for identifying differential iron responses in young overweight women to an energy-restricted haem iron-rich diet
[PMID 25085015] Examination of HFE associations with childhood leukemia risk and extension to other iron regulatory genes
[PMID 25603596] [Effects of the SNPs on rs855791 and rs3811647 on the levels of SF and sTfR in the group of 8 - 14]
| GWAS snp | |
|---|---|
| PMID | [PMID 20139978] |
| Trait | Mean corpuscular hemoglobin |
| Title | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| Risk Allele | G |
| P-val | 5E-25 |
| Odds Ratio | .12 [0.098-0.146] unit increase |
[PMID 26597663] Genetic factors influencing ferritin levels in 14,126 blood donors: results from the Danish Blood Donor Study
| ClinVar | |
|---|---|
| Risk | rs855791(A;A) Rs855791(C;C) |
| Alt | rs855791(A;A) Rs855791(C;C) |
| Reference | Rs855791(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Microcytic anemia |
| Variation | info |
| Gene | TMPRSS6 |
| CLNDBN | not specified Microcytic anemia |
| Reversed | 1 |
| HGVS | NC_000022.10:g.37462936A>G |
| CLNSRC | |
| CLNACC | RCV000246767.1, RCV000384447.1, |
