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 | 10830162 | missense variant | A/C | snv | 4.0E-06 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 10812273 | missense variant | A/C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 19 | 10819992 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.120 | 19 | 10823859 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.120 | 19 | 10823859 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 10802328 | missense variant | C/A;G;T | snv | 8.0E-06; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 19 | 10823886 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
19 | 10732057 | intron variant | C/G | snv | 4.7E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 19 | 10823886 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
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 | 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 | 10823862 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 13 | 2005 | 2016 | ||||||||
|
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 | 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 | |||||||
|
0.851 | 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 | ||||||||
|
0.882 | 0.120 | 19 | 10793832 | missense variant | C/T | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.120 | 19 | 10798543 | missense variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 19 | 10829132 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 | 10793829 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 2005 | 2012 |