Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048943
rs1048943
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
0.010 GeneticVariation BEFREE Analysis of the distributions of SNPs in CYP1A1 and CYP17A1 genes showed that the mutant genotype CC (OR = 4.87) of CYP1A1 rs1048943, and mutant genotype CC (OR = 5.82), recessive genotype AC + CC (OR = 2.17) and allele C (OR = 1.77) of CYP17A1 rs4919686 significantly increased the risk of HS. 30858503

2019