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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 45952244 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
20 | 45952244 | missense variant | C/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
20 | 45952244 | missense variant | C/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||||||
|
20 | 45967790 | frameshift variant | -/G | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 2009 | 2016 | ||||||||||
|
1.000 | 20 | 45963607 | missense variant | A/G | snv |
|
0.700 | 0 | |||||||||||||
|
20 | 45967010 | non coding transcript exon variant | G/A | snv | 0.44 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.925 | 0.040 | 20 | 45957384 | intron variant | C/T | snv | 0.12 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.040 | 20 | 45957384 | intron variant | C/T | snv | 0.12 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 20 | 45967906 | synonymous variant | G/A | snv | 0.33 | 0.32 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 20 | 45950453 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 45956781 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 20 | 45967568 | missense variant | C/A;G | snv | 0.84 |
|
Digestive System Diseases; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
20 | 45961331 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 45961659 | non coding transcript exon variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
20 | 45961659 | non coding transcript exon variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 45961659 | non coding transcript exon variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
20 | 45952814 | intron variant | C/G | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 45948343 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
20 | 45948343 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 20 | 45949365 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 20 | 45952665 | frameshift variant | TCAC/- | delins | 1.2E-04 | 1.6E-04 |
|
0.700 | 0 | |||||||||||
|
1.000 | 20 | 45963501 | missense variant | T/A;C | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 0 |