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rs855791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) normal
(C;T) 0.1 g/dL lower hemoglobin on average
(T;T) 0.2 g/dL lower hemoglobin on average
ReferenceGRCh38 38.1/141
Chromosome22
Position37066896
GeneTMPRSS6
is asnp
is mentioned by
dbSNPrs855791
ebirs855791
HLIrs855791
Exacrs855791
Varsomers855791
Maprs855791
PheGenIrs855791
hapmaprs855791
1000 genomesrs855791
hgdprs855791
ensemblrs855791
gopubmedrs855791
geneviewrs855791
scholarrs855791
googlers855791
pharmgkbrs855791
gwascentralrs855791
openSNPrs855791
23andMers855791
23andMe allrs855791
SNP Nexus

SNPshotrs855791
SNPdbers855791
MSV3drs855791
GWAS Ctlgrs855791
GMAF0.3981
Max Magnitude
? (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 19862010OA-icon.png]
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 20858683OA-icon.png] Common variants at ten genomic loci influence hemoglobin A1C levels via glycemic and non-glycemic pathways

GWAS snp
PMID [PMID 20927387OA-icon.png]
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 21149283OA-icon.png]
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
OMIM613284
Desc
Variant
Relatedalso
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 22815867OA-icon.png] Genetic Determinants for Body Iron Store and Type 2 Diabetes Risk in US Men and Women

[PMID 21115529OA-icon.png] 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.


GET Evidence
TMPRSS6-V736A
aa_change Val736Ala
aa_change_short V736A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.659323
summary



GWAS snp
PMID [PMID 23263863OA-icon.png]
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 23222517OA-icon.png]
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 23092954OA-icon.png] 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 24782651OA-icon.png] 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