TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs855791
rs855791
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0282193
Disease:
Iron Overload
0.020 GeneticVariation BEFREE The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. 23144979 2012
dbSNP: rs855791
rs855791
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0282193
Disease:
Iron Overload
0.020 GeneticVariation BEFREE The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P ≤ 0.0058), hemoglobin (P ≤ 0.0013), iron overload risk (P ≤ 0.0068), and type 2 diabetes risk (P ≤ 0.0314). 22301935 2012
dbSNP: rs1161457931
rs1161457931
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0282193
Disease:
Iron Overload
0.010 GeneticVariation BEFREE The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE genotypes predisposing to iron overload (p.Cys282Tyr + and p.His63Asp +/+; p = 0.01), and the p.736Val variant was negatively associated with hepatic iron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait (OR 0.59, 0.39-0.88). 23144979 2012
dbSNP: rs1208663703
rs1208663703
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0282193
Disease:
Iron Overload
0.010 GeneticVariation BEFREE The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE genotypes predisposing to iron overload (p.Cys282Tyr + and p.His63Asp +/+; p = 0.01), and the p.736Val variant was negatively associated with hepatic iron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait (OR 0.59, 0.39-0.88). 23144979 2012
dbSNP: rs4820268
rs4820268
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
CUI: C0282193
Disease:
Iron Overload
0.010 GeneticVariation BEFREE The 2 TMPRSS6 SNPs rs855791(V736A) and rs4820268(D521D) were both significantly associated with plasma ferritin (P ≤ 0.0058), hemoglobin (P ≤ 0.0013), iron overload risk (P ≤ 0.0068), and type 2 diabetes risk (P ≤ 0.0314). 22301935 2012