Variant: rs1060499582

present in Gene: CYP17A1-AS1;WBP1L;CYP17A1 present in Chromosome: 10 Position on Chromosome: 102831589 Alleles of this Variant: T/A;C

rs1060499582 in CYP17A1-AS1;WBP1L;CYP17A1 gene and Adrenal hyperplasia, congenital, type 5 PMID 15844475 2005 17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.