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 | 0.160 | 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 | ||||||||
|
0.925 | 0.080 | 19 | 10823886 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10823886 | missense variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 19 | 10823868 | missense variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.925 | 0.080 | 19 | 10823868 | missense variant | T/C | 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 | |||||||||||
|
0.925 | 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 | 10823418 | non coding transcript exon variant | T/A;C | snv |
|
Neoplasms; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 19 | 10820017 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
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 | 10819986 | missense variant | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 10818611 | intron variant | G/C | snv | 6.0E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
19 | 10817504 | intron variant | G/A | snv | 2.1E-03 | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 19 | 10812315 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
0.925 | 0.080 | 19 | 10812315 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 19 | 10812273 | missense variant | A/C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 9 | 2005 | 2012 | ||||||||
|
0.882 | 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 | 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 | 10812271 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.710 | 1.000 | 1 | 2016 | 2016 |