Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760695410
rs760695410
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 We detected a homozygous H373L mutation in a patient with combined 17α-hydroxylase/17,20-lyase deficiency. 22452398

2012