FOXA1, forkhead box A1, 3169

N. diseases: 138; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7144658
rs7144658
Entrez Id: 3169;319089
Gene Symbol: FOXA1;TTC6
FOXA1;TTC6
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE In the case control study (1152 patients vs 1242 controls), we observed significant increase in HCC susceptibility in hepatitis B virus carriers associated with a nonsynonymous Thr83Ala variant of FOXA1 (odds ratio [OR], 1.28; 95% confidence interval [CI], 1.11-1.48, for Ala83-containing genotype, after validation in an independent population with 933 patients vs 1030 controls), a tightly linked (CGC)5/6or7 repeat polymorphism at its promoter (OR 1.32; 95% CI 1.10-1.60, for (CGC)6or7-repeat-containing genotype), and their combined haplotype (OR 1.50; 95% CI 1.24-1.81, for (CGC)6or7-Ala83 haplotype). 31400761 2019
dbSNP: rs7144658
rs7144658
Entrez Id: 3169;319089
Gene Symbol: FOXA1;TTC6
FOXA1;TTC6
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE In the case control study (1152 patients vs 1242 controls), we observed significant increase in HCC susceptibility in hepatitis B virus carriers associated with a nonsynonymous Thr83Ala variant of FOXA1 (odds ratio [OR], 1.28; 95% confidence interval [CI], 1.11-1.48, for Ala83-containing genotype, after validation in an independent population with 933 patients vs 1030 controls), a tightly linked (CGC)5/6or7 repeat polymorphism at its promoter (OR 1.32; 95% CI 1.10-1.60, for (CGC)6or7-repeat-containing genotype), and their combined haplotype (OR 1.50; 95% CI 1.24-1.81, for (CGC)6or7-Ala83 haplotype). 31400761 2019
dbSNP: rs7144658
rs7144658
Entrez Id: 3169;319089
Gene Symbol: FOXA1;TTC6
FOXA1;TTC6
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE There was significantly increased ESCC risk associated with the FOXA1 rs7144658 T > C polymorphism among male patients. 27050876 2016