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 | 0.160 | 10 | 100750720 | missense variant | C/T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 10 | 100749869 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.160 | 10 | 100750707 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.925 | 0.160 | 10 | 100749914 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1998 | 2014 | ||||||||
|
1.000 | 0.160 | 10 | 100809132 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1998 | 2014 | ||||||||
|
1.000 | 0.160 | 10 | 100750699 | protein altering variant | -/AGACCG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 2 | 1998 | 2012 | ||||||||
|
10 | 100794914 | intron variant | C/T | snv | 0.91 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 100792995 | intron variant | G/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 10 | 100779535 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.925 | 0.160 | 10 | 100750720 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
10 | 100809207 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 10 | 100779578 | missense variant | C/A;G;T | snv | 1.9E-04; 5.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
10 | 100796696 | intron variant | G/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 100796696 | intron variant | G/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 100749819 | frameshift variant | GC/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100749819 | frameshift variant | GC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100749889 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100749889 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100749759 | frameshift variant | -/GTGAACC | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100749759 | frameshift variant | -/GTGAACC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100750703 | frameshift variant | -/AC | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 100750703 | frameshift variant | -/AC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 |