rs35887327
|
1.000 |
0.200 |
1 |
119422208 |
missense variant |
T/C
|
snv
|
3.0E-03
|
1.3E-02
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs587628683
|
1.000 |
0.200 |
1 |
119421886 |
missense variant |
G/A
|
snv
|
3.6E-05
|
1.4E-05
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs759422374
|
1.000 |
0.200 |
1 |
119422138 |
missense variant |
A/G
|
snv
|
2.0E-05
|
7.0E-06
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs779418168
|
1.000 |
0.200 |
1 |
119421965 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80358216
|
1.000 |
0.200 |
1 |
119422013 |
stop gained |
G/A
|
snv
|
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80358218
|
1.000 |
0.200 |
1 |
119422620 |
stop lost |
A/C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80358219
|
1.000 |
0.200 |
1 |
119421925 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs80358220
|
1.000 |
0.200 |
1 |
119422165 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|
rs80358221
|
1.000 |
0.200 |
1 |
119422277 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
3 beta-Hydroxysteroid dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
0.800 |
|
0 |
|
|