Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1269372676
rs1269372676
CYP17A1 ; WBP1L ; CYP17A1-AS1
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		0.010 GeneticVariation BEFREE The novel mutations A82D, R125X, and C442R further clarify the patients' clinical manifestations of combined 17OHD. 21550081

2011