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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 63498493 | intron variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 63483140 | missense variant | C/A;G | snv | 4.0E-06; 4.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 63483140 | missense variant | C/A;G | snv | 4.0E-06; 4.8E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
17 | 63478937 | intron variant | C/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 63478937 | intron variant | C/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 63482264 | intron variant | A/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.200 | 17 | 63483402 | intron variant | T/C | snv | 0.60 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
17 | 63486097 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
17 | 63486097 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
17 | 63489363 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.160 | 17 | 63492371 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 17 | 63477106 | frameshift variant | CTCGGGCCGCCGGGGGCCGG/- | del | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
17 | 63496977 | missense variant | C/T | snv | 3.7E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 63480479 | stop gained | C/A;G;T | snv | 2.0E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 63482666 | frameshift variant | TGGA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 63483172 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 17 | 63488713 | stop gained | C/T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 63490953 | splice acceptor variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 17 | 63496517 | splice donor variant | G/A;C | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.786 | 28 | 1997 | 2015 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.100 | 0.846 | 13 | 1994 | 2014 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.100 | 0.909 | 11 | 1996 | 2009 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.100 | 0.800 | 10 | 1995 | 2007 |