Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934880
rs28934880
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		A 0.810 CausalMutation CLINVAR

dbSNP: rs121964897
rs121964897
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs80358219
rs80358219
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80358220
rs80358220
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs80358221
rs80358221
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121964896
rs121964896
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		AA 0.700 CausalMutation CLINVAR

dbSNP: rs767128094
rs767128094
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
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
dbSNP: rs80358216
rs80358216
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80358218
rs80358218
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR