NR5A1, nuclear receptor subfamily 5 group A member 1, 2516
N. diseases: 255; N. variants: 38
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 124500181 | missense variant | G/A;T | snv | 4.1E-06; 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 9 | 124500326 | missense variant | C/T | snv | 1.3E-04 | 7.0E-05 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
9 | 124493169 | intron variant | G/A;C;T | snv | 0.49; 3.7E-05; 8.2E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 9 | 124500568 | missense variant | G/A | snv | 6.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 9 | 124500248 | missense variant | C/A;T | snv | 6.9E-05 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 9 | 124500389 | missense variant | G/A | snv | 1.3E-05 | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 9 | 124500196 | missense variant | C/A;T | snv | 1.6E-05; 4.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2000 | 2016 | |||||||
|
0.882 | 0.080 | 9 | 124500196 | missense variant | C/A;T | snv | 1.6E-05; 4.1E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.882 | 0.080 | 9 | 124500196 | missense variant | C/A;T | snv | 1.6E-05; 4.1E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 9 | 124500191 | missense variant | C/T | snv | 3.3E-05 | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.080 | 9 | 124500191 | missense variant | C/T | snv | 3.3E-05 | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
0.925 | 0.080 | 9 | 124500574 | missense variant | G/A | snv | 2.3E-04 | 9.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.080 | 9 | 124500574 | missense variant | G/A | snv | 2.3E-04 | 9.3E-04 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 9 | 124500196 | missense variant | C/A;T | snv | 1.6E-05; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 124500592 | missense variant | C/G;T | snv | 2.3E-04; 4.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 124500592 | missense variant | C/G;T | snv | 2.3E-04; 4.1E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 124500261 | splice acceptor variant | CAGCTGCAG/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 9 | 124500652 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 9 | 124500652 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 9 | 124493110 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.120 | 9 | 124493110 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |