Gene: HSD17B3 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119481077
rs119481077
HSD17B3
A 0.800 CausalMutation CLINVAR Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? 24025597

2013
dbSNP: rs119481077
rs119481077
HSD17B3
A 0.800 CausalMutation CLINVAR Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. 21214500

2011
dbSNP: rs119481077
rs119481077
HSD17B3
A 0.800 CausalMutation CLINVAR 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. 22212252

2011
dbSNP: rs119481077
rs119481077
HSD17B3
A 0.800 CausalMutation CLINVAR 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. 19498320

2009
dbSNP: rs119481077
rs119481077
HSD17B3
A 0.800 CausalMutation CLINVAR A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998
dbSNP: rs119481077
rs119481077
HSD17B3
0.800 GeneticVariation UNIPROT

dbSNP: rs119481075
rs119481075
HSD17B3
0.710 GeneticVariation UNIPROT

dbSNP: rs119481080
rs119481080
HSD17B3
0.710 GeneticVariation UNIPROT

dbSNP: rs144809928
rs144809928
HSD17B3
0.700 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
dbSNP: rs372027264
rs372027264
HSD17B3
0.700 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
dbSNP: rs747724352
rs747724352
HSD17B3
0.700 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
dbSNP: rs767259718
rs767259718
HSD17B3 ; HSD17B3-AS1
0.700 GeneticVariation UNIPROT Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development. 26545797

2016
dbSNP: rs201115371
rs201115371
HSD17B3
A 0.700 CausalMutation CLINVAR Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. 23295294

2012
dbSNP: rs201115371
rs201115371
HSD17B3
A 0.700 CausalMutation CLINVAR 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. 17509588

2008
dbSNP: rs144809928
rs144809928
HSD17B3
0.700 GeneticVariation UNIPROT Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 11158067

2001
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 11158067

2001
dbSNP: rs372027264
rs372027264
HSD17B3
0.700 GeneticVariation UNIPROT Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 11158067

2001
dbSNP: rs747724352
rs747724352
HSD17B3
0.700 GeneticVariation UNIPROT Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 11158067

2001
dbSNP: rs767259718
rs767259718
HSD17B3 ; HSD17B3-AS1
0.700 GeneticVariation UNIPROT Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 11158067

2001
dbSNP: rs201115371
rs201115371
HSD17B3
A 0.700 CausalMutation CLINVAR 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. 10599740

1999
dbSNP: rs144809928
rs144809928
HSD17B3
0.700 GeneticVariation UNIPROT A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998
dbSNP: rs144809928
rs144809928
HSD17B3
0.700 GeneticVariation UNIPROT Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 9709959

1998
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). 9709959

1998
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. 9758445

1998