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 | 9 | 100264835 | missense variant | T/C | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 9 | 100292952 | stop gained | C/A;T | snv | 1.6E-05; 4.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 5 | 2003 | 2013 | |||||||
|
1.000 | 0.080 | 9 | 100253125 | frameshift variant | C/- | del | 8.4E-05 | 5.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 3 | 2003 | 2011 | ||||||
|
0.925 | 0.080 | 9 | 100284342 | stop gained | C/T | snv | 1.2E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 2003 | 2011 | |||||||
|
1.000 | 0.080 | 9 | 100293045 | splice donor variant | T/C;G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 9 | 100292952 | stop gained | C/A;T | snv | 1.6E-05; 4.8E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 9 | 100293039 | stop gained | C/A;T | snv | 1.2E-05; 1.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
9 | 100186403 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 9 | 100253088 | frameshift variant | G/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 9 | 100300600 | frameshift variant | A/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 9 | 100284342 | stop gained | C/T | snv | 1.2E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 9 | 100297017 | stop gained | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 100284591 | stop gained | A/G;T | snv | 3.1E-04 | 3.3E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 9 | 100126450 | frameshift variant | -/CAGA | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 9 | 100292976 | stop gained | C/A;G;T | snv | 3.4E-04; 1.6E-05 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
9 | 100292626 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |