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 | 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 | ||||||||
|
0.925 | 0.160 | 10 | 100749914 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
10 | 100750693 | splice region variant | TACTACGAGACCGG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.160 | 10 | 100806519 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 10 | 100749832 | frameshift variant | TGGCCCACCAGGGTGTGCGGCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 10 | 100781310 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 10 | 100824682 | stop gained | C/A;T | snv | 5.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 10 | 100809140 | missense variant | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.240 | 10 | 100809115 | synonymous variant | C/T | snv | 7.4E-02 | 0.13 |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.240 | 10 | 100809115 | synonymous variant | C/T | snv | 7.4E-02 | 0.13 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 10 | 100748820 | intron variant | T/G | snv | 0.73 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
10 | 100794914 | intron variant | C/T | snv | 0.91 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
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 | ||||||||||
|
10 | 100792995 | intron variant | G/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |