Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894061
rs104894061
CYP11B1 ; GML
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.010 GeneticVariation BEFREE The family had two girls affected with 1beta-hydroxylase deficiency born with severe ambiguous genitalia who were both homozygous for the T318M mutation in the CYP11B1 gene, which codes for the 11beta-hydroxylase enzyme. 10487675

1999