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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 131573314 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 5 | 1992 | 2018 | ||||||||
|
6 | 131583392 | missense variant | G/A;C | snv | 2.0E-05; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 7 | 1992 | 2016 | |||||||||
|
6 | 131581326 | missense variant | G/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 4 | 1992 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 131488780 | intron variant | T/C | snv | 0.31 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 131576666 | stop gained | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 2 | 1999 | 2012 | |||||||||
|
6 | 131583810 | stop gained | C/T | snv | 2.0E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 1992 | 2016 | ||||||||
|
6 | 131582620 | splice acceptor variant | G/C | snv | 2.8E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1995 | 2015 | ||||||||
|
6 | 131581296 | missense variant | A/G | snv | 3.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1994 | 2016 | ||||||||
|
6 | 131560938 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 131578846 | intron variant | C/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 131578846 | intron variant | C/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 131578846 | intron variant | C/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 131578846 | intron variant | C/T | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 131553246 | intron variant | -/C | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 131582619 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||||||||
|
1.000 | 0.080 | 6 | 131577068 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 131577068 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
6 | 131476264 | intron variant | T/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
6 | 131549121 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |