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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 110201484 | stop gained | A/C;T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 110201484 | stop gained | A/C;T | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 110163048 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 110163048 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 110129185 | splice donor variant | C/A | snv | 4.0E-06 | 7.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 2 | 110144560 | frameshift variant | TC/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 110146752 | splice donor variant | C/- | del | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 110146752 | splice donor variant | C/- | del | 8.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 110168521 | frameshift variant | T/-;TT | delins | 2.1E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 110161686 | stop gained | G/A | snv | 2.0E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 2 | 110168521 | frameshift variant | T/-;TT | delins | 2.1E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 2 | 110144533 | stop gained | A/C;G | snv | 4.0E-06 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.120 | 2 | 110204955 | missense variant | C/A | snv | 7.5E-03 | 3.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.040 | 2 | 110131733 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.160 | 2 | 110123979 | missense variant | G/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2007 | 2007 |