Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907168
rs387907168
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C3553382
Disease:
CORTISONE REDUCTASE DEFICIENCY 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE The results of our study indicated that the HSD11B1 rs12086634 is associated with both T2D and metS, but HSD11B1 rs846910 is associated with only T2D in South Indian population. 28750217 2017
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE We conclude that in a South Indian population, a polymorphism of the HSD11B1 gene containing the single-nucleotide polymorphism (SNP) rs12086634 T→G confers increased risk of metabolic syndrome. 23869418 2013
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE HSD11B1 polymorphisms (rs12086634 and rs1000283) were associated with metabolic syndrome among type 2 diabetic subjects and an H6PD polymorphism (rs17368528) was a risk factor for metabolic syndrome in nondiabetic subjects. 21869537 2011
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.040 GeneticVariation BEFREE We conclude that, in a population of Southern European Caucasian women with and without PCOS, alleles of HSD11B1 containing the two SNPs rs846910 A and rs12086634 T confer increased 11β-HSD1 expression and activity, which associates with the metabolic syndrome. 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 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: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The results of our study indicated that the HSD11B1 rs12086634 is associated with both T2D and metS, but HSD11B1 rs846910 is associated with only T2D in South Indian population. 28750217 2017
dbSNP: rs846910
rs846910
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.020 GeneticVariation BEFREE The results of our study indicated that the HSD11B1 rs12086634 is associated with both T2D and metS, but HSD11B1 rs846910 is associated with only T2D in South Indian population. 28750217 2017
dbSNP: rs12086634
rs12086634
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE The association of common SNPs in HSD11B1 [IVS3-29G/T (rs12086634), IVS4-11120A/G (rs1000283)] and H6PD [R453Q (rs6688832), P554L (rs17368528)], either separately or combined, with type 2 diabetes and metabolic syndrome was examined in 427 Korean subjects with type 2 diabetes and in 358 nondiabetic Korean subjects. 21869537 2011
dbSNP: rs846910
rs846910
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.020 GeneticVariation BEFREE We conclude that, in a population of Southern European Caucasian women with and without PCOS, alleles of HSD11B1 containing the two SNPs rs846910 A and rs12086634 T confer increased 11β-HSD1 expression and activity, which associates with the metabolic syndrome. 21622477 2011
dbSNP: rs11119328
rs11119328
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0233475
Disease:
Euthymic mood
0.010 GeneticVariation BEFREE We found a significant association of rs11119328 variant genotypes with increased risk for at least one suicide attempt (OR: 7.10, p = 0.049) and an association of variant genotypes of rs11811440 with euthymic mood under optimized pharmacological treatment (OR: 0.05, P = 0.014). 31704233 2020
dbSNP: rs11811440
rs11811440
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0233475
Disease:
Euthymic mood
0.010 GeneticVariation BEFREE We found a significant association of rs11119328 variant genotypes with increased risk for at least one suicide attempt (OR: 7.10, p = 0.049) and an association of variant genotypes of rs11811440 with euthymic mood under optimized pharmacological treatment (OR: 0.05, P = 0.014). 31704233 2020
dbSNP: rs45487298
rs45487298
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE The relationship of <i>HSD11B1</i> rs45487298 and <i>H6PD</i> rs6688832 polymorphisms with obesity and MetS was studied. 31558916 2019
dbSNP: rs45487298
rs45487298
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE The relationship of <i>HSD11B1</i> rs45487298 and <i>H6PD</i> rs6688832 polymorphisms with obesity and MetS was studied. 31558916 2019
dbSNP: rs746481995
rs746481995
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE We examined how point mutations associated with hereditary amyloidosis (F71Y and L170P) or atherosclerosis (L159R) influence the local apoA-I conformation in model lipoproteins. 30004693 2018
dbSNP: rs746481995
rs746481995
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0740340
Disease:
Amyloidosis, Familial
0.010 GeneticVariation BEFREE We examined how point mutations associated with hereditary amyloidosis (F71Y and L170P) or atherosclerosis (L159R) influence the local apoA-I conformation in model lipoproteins. 30004693 2018
dbSNP: rs746481995
rs746481995
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE We examined how point mutations associated with hereditary amyloidosis (F71Y and L170P) or atherosclerosis (L159R) influence the local apoA-I conformation in model lipoproteins. 30004693 2018
dbSNP: rs846910
rs846910
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The results of our study indicated that the HSD11B1 rs12086634 is associated with both T2D and metS, but HSD11B1 rs846910 is associated with only T2D in South Indian population. 28750217 2017
dbSNP: rs12565406
rs12565406
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Subjects homozygous for the major allele had an adjusted odds ratio of 2.16 (95% confidence interval [CI] 1.23-3.90) for rs2235543, 2.06 (95% CI 1.08-4.13) for rs12565406, and 1.95 (95% CI 1.13-3.49) for rs4844880 for having nonalcoholic fatty liver disease compared with carriers of the minor allele. 27715400 2016
dbSNP: rs2235543
rs2235543
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Subjects homozygous for the major allele had an adjusted odds ratio of 2.16 (95% confidence interval [CI] 1.23-3.90) for rs2235543, 2.06 (95% CI 1.08-4.13) for rs12565406, and 1.95 (95% CI 1.13-3.49) for rs4844880 for having nonalcoholic fatty liver disease compared with carriers of the minor allele. 27715400 2016
dbSNP: rs4844880
rs4844880
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0400966
Disease:
Non-alcoholic Fatty Liver Disease
0.010 GeneticVariation BEFREE Subjects homozygous for the major allele had an adjusted odds ratio of 2.16 (95% confidence interval [CI] 1.23-3.90) for rs2235543, 2.06 (95% CI 1.08-4.13) for rs12565406, and 1.95 (95% CI 1.13-3.49) for rs4844880 for having nonalcoholic fatty liver disease compared with carriers of the minor allele. 27715400 2016
dbSNP: rs45487298
rs45487298
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE The carriage of ins4436A (rs45487298) polymorphism in intron 3 of the HSD11B1 gene was more frequent among patients with EH than among controls (p=0.013). 26671915 2015
dbSNP: rs4844880
rs4844880
Entrez Id: 3290;101930114
Gene Symbol: HSD11B1;HSD11B1-AS1
HSD11B1;HSD11B1-AS1
CUI: C0001418
Disease:
Adenocarcinoma
0.010 GeneticVariation BEFREE The HSD11B1 SNP (rs4844880) showed a significant increased risk for adenocarcinoma within former smokers (OR: 3.9495% CI: 1.68-9.22, P = 0.011). 24976539 2015