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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.700 | 1.000 | 36 | 1989 | 2018 | ||||||||
|
1.000 | 0.160 | 2 | 25240312 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 36 | 1989 | 2018 | ||||||||
|
2 | 25260101 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
2 | 25250442 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
2 | 25260101 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25263901 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25289569 | intron variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 25289569 | intron variant | T/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 25240614 | intron variant | G/A | snv | 0.41 | 0.41 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 25265950 | intron variant | T/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 25265950 | intron variant | T/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 25235984 | intron variant | A/G | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 25263901 | intron variant | T/C | snv | 0.22 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
2 | 25263901 | intron variant | T/C | snv | 0.22 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 36 | 1989 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 25246633 | synonymous variant | C/T | snv | 0.19 | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 2 | 25247044 | splice region variant | C/T | snv | 0.71 | 0.69 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 2 | 25235779 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 2 | 25269598 | intron variant | A/G | snv | 0.31 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 2 | 25278036 | intron variant | C/A | snv | 6.6E-03 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |