Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs28939085
rs28939085
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 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
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. 8550739

1996
dbSNP: rs28939085
rs28939085
HSD17B3
0.700 GeneticVariation UNIPROT Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. 8075637

1994