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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 8630911 | missense variant | G/A;T | snv | 6.1E-05; 2.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 8733391 | intron variant | G/T | snv | 0.23 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 3 | 8733882 | frameshift variant | GG/- | del | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 3 | 8733883 | frameshift variant | GAAGAGCA/- | delins | 3.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 3 | 8733913 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 3 | 8733916 | missense variant | G/A;C | snv | 4.3E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 3 | 8733916 | missense variant | G/A;C | snv | 4.3E-04 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 2000 | 2011 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 1.000 | 14 | 2000 | 2011 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 3 | 8733960 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 3 | 8733960 | missense variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||||
|
3 | 8733962 | missense variant | C/A;T | snv |
|
0.800 | 0 | ||||||||||||||
|
0.882 | 0.120 | 3 | 8733975 | missense variant | C/A;G;T | snv | 0.29 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.120 | 3 | 8733975 | missense variant | C/A;G;T | snv | 0.29 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 3 | 8733975 | missense variant | C/A;G;T | snv | 0.29 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 8733976 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1.000 | 0.040 | 3 | 8741819 | intron variant | A/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 3 | 8745542 | missense variant | T/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 3 | 8745542 | missense variant | T/A;C | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 3 | 8745547 | missense variant | G/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |