Disease: Adrenal Insufficiency, Congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6161
rs6161
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
CUI: C3502131
Disease:
Adrenal Insufficiency, Congenital 		0.010 GeneticVariation BEFREE WES identified compound heterozygous variants in CYP11A1 including a novel canonical splice site variant (c.425+1G>A) and a previously reported p.E314K variant, which were consistent with a diagnosis of congenital adrenal insufficiency with partial 46XY sex reversal. 29178636 2017