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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 830314 | intron variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||||
|
12 | 792399 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 792399 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.925 | 0.160 | 12 | 868697 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
0.925 | 0.160 | 12 | 868697 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
12 | 871759 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 882544 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 889199 | missense variant | G/T | snv | 0.37 | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
12 | 889199 | missense variant | G/T | snv | 0.37 | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 12 | 893691 | intron variant | T/C | snv | 0.74 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 882140 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 883487 | synonymous variant | G/A | snv | 4.4E-04 | 1.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 12 | 889653 | intron variant | G/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 12 | 889653 | intron variant | G/C | snv | 0.28 |
|
Neoplasms; Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 885321 | missense variant | G/C | snv | 1.00 | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 12 | 868772 | stop gained | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 12 | 868772 | stop gained | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 12 | 868046 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 868422 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 12 | 868745 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 868470 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 12 | 859428 | frameshift variant | GA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
12 | 834787 | intron variant | G/T | snv | 0.63 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |