Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease. 17826523 2007
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease. 17826523 2007
dbSNP: rs45609334
rs45609334
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease. 17826523 2007
dbSNP: rs45609334
rs45609334
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE These results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease. 17826523 2007
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. 11912155 2002
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. 11912155 2002
dbSNP: rs45609334
rs45609334
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. 11912155 2002
dbSNP: rs45609334
rs45609334
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Men with the variant genotypes at either B1-N367T or B2-c7519g had a significantly higher risk to develop prostate cancer, especially the hereditary type of prostate cancer. 11912155 2002
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C1328504
Disease:
Hormone refractory prostate cancer
0.010 GeneticVariation BEFREE A common 1245 A→C missense-encoding single nucleotide polymorphism in HSD3B1 (rs1047303), the gene that encodes this enzyme, leads to a more stable protein that is resistant to degradation and thus increased production of potent androgens from adrenal precursors, facilitating castration-resistant PCa development. 31271415 2019
dbSNP: rs1289480182
rs1289480182
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE However, HSD3B1 T→C Leu338, HTR2A T102C, GNAS T393C, and RGS2 G638A polymorphisms were not associated with hypertension risk. 23859711 2013
dbSNP: rs6203
rs6203
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C1384514
Disease:
Conn Syndrome
0.010 GeneticVariation BEFREE The SNPs of rs12410453 A allele in HSD3β2 gene [odds ratio (OR) 1.92, 95% confidence interval (CI) 1.13-3.32, P=0.018] and rs6203 C allele in the HSD3β1 gene (OR 2.21, 95% CI 1.28-3.95, P=0.006) showed significant association with primary aldosteronism, with corresponding population attributable risk of 6.7 and 30.7%, respectively. 24006038 2013
dbSNP: rs6203
rs6203
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0020428
Disease:
Hyperaldosteronism
0.010 GeneticVariation BEFREE Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio. 24006038 2013
dbSNP: rs6428829
rs6428829
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0001144
Disease:
Acne Vulgaris
0.010 GeneticVariation BEFREE This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. 24157973 2013
dbSNP: rs6428829
rs6428829
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0702166
Disease:
Acne
0.010 GeneticVariation BEFREE This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. 24157973 2013
dbSNP: rs6203
rs6203
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0271183
Disease:
Severe myopia
0.010 GeneticVariation BEFREE An MDR analysis corroborated the synergistic genotype association and demonstrated that synergistic interaction between rs6203 (HSD3B1), rs10046 (CYP19A1), and sex might confer susceptibility to high myopia (p=0.019). 21921981 2011
dbSNP: rs1047303
rs1047303
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for EH, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level. 20660004 2010
dbSNP: rs6203
rs6203
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE rs6203 and rs1047303 in the HSD3B1 gene are useful genetic markers for EH, while polymorphisms of HSD3B1 are associated with the BP and aldosterone level. 20660004 2010
dbSNP: rs142647336
rs142647336
Entrez Id: 3283
Gene Symbol: HSD3B1
HSD3B1
CUI: C0266362
Disease:
Ambiguous Genitalia
0.010 GeneticVariation BEFREE In conclusion, the findings of the in vitro study of mutant type II 3betaHSD enzyme activities correlated with a less severe clinical phenotype of nonsalt-wasting and a lesser degree of genital ambiguity in the patient with homozygous L6F mutation compared to a more severe clinical phenotype of salt-wasting and severe degree of genital ambiguity in the patient with homozygous T259M mutation in the gene. 10770215 2000