|
rs119481077
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481075
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481080
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.710 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs115063639
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481074
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481076
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481078
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs119481079
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
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 |
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
11158067 |
2001 |
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
|
9709959 |
1998 |
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
|
9758445 |
1998 |
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
8550739 |
1996 |
|
rs144809928
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
|
8075637 |
1994 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
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 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
11158067 |
2001 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
|
9709959 |
1998 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
|
9758445 |
1998 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
8550739 |
1996 |
|
rs28939085
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
|
8075637 |
1994 |
|
rs372027264
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
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 |
|
rs372027264
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
11158067 |
2001 |
|
rs372027264
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
|
9758445 |
1998 |
|
rs372027264
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
|
9709959 |
1998 |
|
rs372027264
|
|
17-Hydroxysteroid Dehydrogenase Deficiency
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
|
8550739 |
1996 |