Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs905880501
rs905880501
HSD3B2
0.010 GeneticVariation BEFREE We report a novel mutation of the HSD3B2 gene, Q334X, responsible for a classic 3βHSD deficiency. 22343390

2012