NPHP4, nephrocystin 4, 261734
N. diseases: 46; N. variants: 24
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 5874946 | missense variant | A/G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 6 | 2002 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 5866443 | missense variant | G/A | snv | 1.8E-03 | 1.7E-03 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | ||||||
|
1.000 | 0.080 | 1 | 5887425 | missense variant | G/A;T | snv | 3.2E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 5875036 | missense variant | C/T | snv | 2.4E-03 | 2.0E-03 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | ||||||
|
1.000 | 0.080 | 1 | 5887444 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 5890912 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | ||||||
|
1.000 | 0.080 | 1 | 5927685 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 2002 | 2012 | ||||||
|
0.925 | 0.160 | 1 | 5905456 | frameshift variant | GAGG/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 1 | 5873295 | frameshift variant | A/- | del | 2.1E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 5887403 | stop gained | C/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 1 | 5887394 | stop gained | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 5904716 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 1 | 5904788 | stop gained | G/A | snv | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 5947199 | missense variant | G/A | snv | 1.6E-03 | 1.2E-03 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 5890969 | missense variant | G/A | snv | 4.0E-04 | 9.5E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 5864475 | missense variant | G/C | snv | 1.5E-04 | 3.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 1 | 5864484 | missense variant | G/A | snv | 1.8E-04 | 9.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 |