Gene: CYP17A1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773865367
rs773865367
CYP17A1 ; WBP1L ; CYP17A1-AS1
0.010 GeneticVariation BEFREE One patient and two of her siblings were found to carry compound heterozygous mutations (C183Y and T390R) in CYP17A1 and were eventually diagnosed with atypical congenital adrenal hyperplasia. 31388123

2019