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 | 0.160 | 11 | 47234872 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 1996 | 1996 | ||||||
|
1.000 | 0.160 | 11 | 47234784 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.710 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
11 | 47224846 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||||
|
1.000 | 0.040 | 11 | 47214747 | intron variant | A/G | snv | 0.69 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 47214747 | intron variant | A/G | snv | 0.69 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
11 | 47230556 | intron variant | G/A | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.160 | 11 | 47235326 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 11 | 47235308 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 11 | 47237862 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 11 | 47213167 | upstream gene variant | C/T | snv | 0.62 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47213167 | upstream gene variant | C/T | snv | 0.62 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47213167 | upstream gene variant | C/T | snv | 0.62 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47238117 | intron variant | T/C | snv | 0.60 | 0.58 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 11 | 47238117 | intron variant | T/C | snv | 0.60 | 0.58 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 11 | 47238117 | intron variant | T/C | snv | 0.60 | 0.58 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.882 | 0.080 | 11 | 47233766 | intron variant | G/A | snv | 0.26 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47233766 | intron variant | G/A | snv | 0.26 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47233766 | intron variant | G/A | snv | 0.26 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 11 | 47237713 | splice donor variant | G/C | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 11 | 47237713 | splice donor variant | G/C | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 11 | 47237713 | splice donor variant | G/C | snv | 0.27 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 11 | 47232500 | intron variant | G/A;C;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |