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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 1 | 109630697 | missense variant | G/C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 1 | 109630740 | missense variant | G/T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 1 | 109629487 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1 | 109628710 | missense variant | G/A | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 1 | 109630690 | stop lost | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 1 | 109628692 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 1 | 109627453 | stop gained | C/A | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 1 | 109630343 | stop gained | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 109628725 | frameshift variant | G/- | delins |
|
0.700 | 0 |