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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 20 | 44623053 | missense variant | C/T | snv | 7.2E-05 | 9.8E-05 |
|
0.800 | 1.000 | 18 | 1984 | 2015 | |||||||
|
0.851 | 0.240 | 20 | 44623039 | missense variant | C/T | snv | 1.2E-05 | 5.6E-05 |
|
0.800 | 1.000 | 18 | 1984 | 2016 | |||||||
|
0.882 | 0.240 | 20 | 44620391 | missense variant | G/A | snv | 5.2E-05 | 2.0E-04 |
|
0.800 | 1.000 | 17 | 1984 | 2015 | |||||||
|
1.000 | 20 | 44624279 | missense variant | C/T | snv | 2.0E-05 |
|
0.800 | 1.000 | 15 | 1984 | 2015 | |||||||||
|
0.882 | 0.160 | 20 | 44621121 | missense variant | G/A;C | snv | 2.4E-05 |
|
0.800 | 1.000 | 15 | 1984 | 2015 | ||||||||
|
0.925 | 0.160 | 20 | 44625580 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 15 | 1984 | 2015 | |||||||||
|
0.925 | 0.160 | 20 | 44626498 | missense variant | A/G | snv | 7.2E-05 | 7.0E-05 |
|
0.800 | 1.000 | 15 | 1984 | 2016 | |||||||
|
1.000 | 20 | 44636279 | missense variant | G/C | snv | 8.3E-06 | 1.4E-05 |
|
0.800 | 1.000 | 14 | 1984 | 2015 | ||||||||
|
1.000 | 20 | 44625662 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 14 | 1984 | 2015 | ||||||||||
|
0.882 | 0.160 | 20 | 44625581 | missense variant | G/A | snv | 1.4E-05 |
|
0.800 | 1.000 | 14 | 1984 | 2016 | ||||||||
|
0.882 | 0.160 | 20 | 44623054 | missense variant | G/A | snv | 1.3E-04 | 7.0E-06 |
|
0.800 | 1.000 | 13 | 1984 | 1998 | |||||||
|
0.882 | 0.160 | 20 | 44621121 | missense variant | G/A;C | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases | 0.710 | 1.000 | 0 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 20 | 44626516 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
1.000 | 20 | 44626517 | missense variant | G/A | snv | 1.4E-05 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | |||||||||
|
0.925 | 0.160 | 20 | 44621103 | missense variant | G/A;T | snv | 8.0E-06; 2.8E-05 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
0.925 | 0.160 | 20 | 44636264 | missense variant | C/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
0.851 | 0.160 | 20 | 44626570 | missense variant | G/C;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
0.851 | 0.160 | 20 | 44624272 | missense variant | G/T | snv | 1.2E-05 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
1.000 | 20 | 44626598 | missense variant | C/A | snv |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||||
|
1.000 | 20 | 44625628 | missense variant | C/G;T | snv | 5.0E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | |||||||||
|
1.000 | 20 | 44625602 | missense variant | G/A;C;T | snv | 1.4E-05; 4.7E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | |||||||||
|
1.000 | 20 | 44624212 | missense variant | T/C;G | snv | 4.1E-06 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | |||||||||
|
1.000 | 20 | 44626592 | missense variant | G/A | snv | 2.8E-04 | 8.0E-04 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | ||||||||
|
1.000 | 20 | 44625601 | missense variant | C/T | snv | 6.3E-05 |
|
0.700 | 1.000 | 11 | 1984 | 1998 | |||||||||
|
1.000 | 20 | 44622612 | missense variant | G/A | snv | 4.4E-05 | 7.0E-05 |
|
0.700 | 1.000 | 11 | 1984 | 1998 |