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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 117314731 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
7 | 117299233 | intron variant | C/T | snv | 3.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
7 | 117299233 | intron variant | C/T | snv | 3.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
7 | 117504294 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
7 | 117401015 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.800 | 1.000 | 17 | 1991 | 2018 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Infections; Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Infections; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Respiratory Tract Diseases | 0.700 | 0 |