Gene: HSD3B2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations. 22579964

2012
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 18252794

2008
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. 12050213

2002
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT 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: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. 10651755

2000
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. 10599696

1999
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents. 9719627

1998
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Molecular analysis of type II 3 beta-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 beta-hydroxysteroid dehydrogenase deficiency. 7633460

1995
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene. 7608265

1995
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD. 7893703

1995
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. 7633426

1995
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. 8185809

1994
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia. 7833923

1994
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency. 7962268

1994
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Detection and functional characterization of the novel missense mutation Y254D in type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene of a female patient with nonsalt-losing 3 beta HSD deficiency. 8126127

1994
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Mutation in the human gene for 3 beta-hydroxysteroid dehydrogenase type II leading to male pseudohermaphroditism without salt loss. 8060486

1994
dbSNP: rs28934880
rs28934880
HSD3B2
0.810 GeneticVariation UNIPROT Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. 8316254

1993
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations. 22579964

2012
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. 18252794

2008
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. 12050213

2002
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. 10651755

2000
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT 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: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. 10599696

1999
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT Variants of the type II 3beta-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescents. 9719627

1998
dbSNP: rs121964897
rs121964897
HSD3B2
0.800 GeneticVariation UNIPROT Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD. 7893703

1995