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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 10807681 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 10807681 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 10748832 | intron variant | G/A | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
19 | 10830162 | missense variant | A/C | snv | 4.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
19 | 10732057 | intron variant | C/G | snv | 4.7E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 10794013 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 10794013 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 10817504 | intron variant | G/A | snv | 2.1E-03 | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 2005 | 2016 | ||||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 6 | 2005 | 2016 | ||||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.720 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.120 | 19 | 10793829 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 18 | 2005 | 2015 | ||||||||
|
0.882 | 0.120 | 19 | 10812271 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 2005 | 2012 | ||||||||
|
0.882 | 0.120 | 19 | 10793833 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2005 | 2012 | ||||||||
|
0.882 | 0.120 | 19 | 10793832 | missense variant | C/T | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2005 | 2012 | |||||||
|
0.882 | 0.120 | 19 | 10793829 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2005 | 2012 | ||||||||
|
0.882 | 0.120 | 19 | 10823862 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2005 | 2012 | ||||||||
|
0.882 | 0.120 | 19 | 10793832 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 8 | 2005 | 2017 | |||||||
|
0.882 | 0.120 | 19 | 10823862 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 8 | 2007 | 2015 | ||||||||
|
0.882 | 0.120 | 19 | 10812271 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 8 | 2010 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 10793833 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2005 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 10793833 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 10793832 | missense variant | C/T | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 19 | 10812271 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 |