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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 11 | 65720385 | missense variant | G/A | snv | 9.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||||
|
0.925 | 0.120 | 11 | 65720385 | missense variant | G/A | snv | 9.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.800 | 1.000 | 5 | 2006 | 2018 | ||||||
|
1.000 | 0.120 | 11 | 65720721 | missense variant | C/T | snv | 4.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||||
|
1.000 | 0.120 | 11 | 65720644 | missense variant | C/A;T | snv | 1.1E-05; 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||||
|
1.000 | 0.120 | 11 | 65720062 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2006 | 2010 | |||||||
|
1.000 | 0.120 | 11 | 65720085 | missense variant | T/A;C | snv | 8.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 11 | 65720363 | missense variant | G/A | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 11 | 65720411 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 11 | 65717649 | 3 prime UTR variant | C/T | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 65717649 | 3 prime UTR variant | C/T | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 11 | 65720385 | missense variant | G/A | snv | 9.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
11 | 65714051 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 65714051 | non coding transcript exon variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 65715899 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 65721085 | upstream gene variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |