Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767128094
rs767128094
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease:
3 beta-Hydroxysteroid dehydrogenase deficiency 		A 0.700 GeneticVariation CLINVAR Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 18252794 2008