Source: BEFREE

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 		0.810 GeneticVariation BEFREE A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty. 10843183

2000
dbSNP: rs762479018
rs762479018
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.710 GeneticVariation BEFREE The propositus's 2-year-old XX sister was also homozygous for L173R and showed the biochemical characteristics of partial 3 beta-HSD deficiency without clinical symptoms or signs. 8060486

1994
dbSNP: rs765547422
rs765547422
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.710 GeneticVariation BEFREE The case described herein corroborates the strong genotype-phenotype correlation associated with the HSD3B2 p.P222Q mutation, which leads to a classic salt-wasting 3β-HSD deficiency. 25211449

2014
dbSNP: rs1351141519
rs1351141519
POMC
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 26079780

2015
dbSNP: rs1465262924
rs1465262924
ACOT7
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213

2002
dbSNP: rs201988564
rs201988564
FBN2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213

2002
dbSNP: rs756607591
rs756607591
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes. 26079780

2015
dbSNP: rs905880501
rs905880501
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.010 GeneticVariation BEFREE We report a novel mutation of the HSD3B2 gene, Q334X, responsible for a classic 3βHSD deficiency. 22343390

2012