Disease: Congenital adrenal hyperplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs756607591
rs756607591
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0001627
Disease:
Congenital adrenal hyperplasia 		0.010 GeneticVariation BEFREE 3-β-hydroxysteroid dehydrogenase (HSD3B2) deficiency accounts for less than 5% of congenital adrenal hyperplasia worldwide, but is relatively common among the Old Order Amish of North America due to a HSD3B2 c.35G>A founder mutation. 26079780 2015
dbSNP: rs765547422
rs765547422
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0001627
Disease:
Congenital adrenal hyperplasia 		0.010 GeneticVariation BEFREE Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia. 21340167 2010