Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.030 GeneticVariation BEFREE Women who were heterozygous for rs846910 A and homozygous for rs12086634 T (GA, TT genotype) had a higher risk of metabolic syndrome, regardless of the diagnosis of PCOS (odds ratio in the whole cohort=2.77 (95% confidence interval (CI) 1.16-6.67), P=0.023). 21622477 2011
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.030 GeneticVariation BEFREE Our objective was to investigate a functional polymorphism in HSD11B1 (T-->G in the third intron rs12086634, which associates with lower 11beta-HSD1 activity) in PCOS with and without obesity. 16551740 2006
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.030 GeneticVariation BEFREE Case-control analyses revealed no differences in genotype distribution between PCOS and controls for rs12086634 or rs6688832 (both P = 0.84). 16817821 2006
dbSNP: rs846908
rs846908
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE To evaluate whether single nucleotide polymorphisms of HSD11B1 (rs846908) and H6PD (rs6688832 and rs17368528) are associated with polycystic ovary syndrome (PCOS) in Chinese population. 26452272 2015
dbSNP: rs3753519
rs3753519
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Of the 5 promoter SNPs, 3 (rs760951; rs4844880; rs3753519) were less frequent in the PCOS group compared to healthy controls. 24969481 2014
dbSNP: rs4844880
rs4844880
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Of the 5 promoter SNPs, 3 (rs760951; rs4844880; rs3753519) were less frequent in the PCOS group compared to healthy controls. 24969481 2014
dbSNP: rs846910
rs846910
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Women who were heterozygous for rs846910 A and homozygous for rs12086634 T (GA, TT genotype) had a higher risk of metabolic syndrome, regardless of the diagnosis of PCOS (odds ratio in the whole cohort=2.77 (95% confidence interval (CI) 1.16-6.67), P=0.023). 21622477 2011