Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 22 | 20996740 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.160 | 22 | 20997287 | missense variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.160 | 22 | 20989645 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.160 | 22 | 20995995 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.160 | 22 | 20982334 | 5 prime UTR variant | T/A;C | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 22 | 20996679 | non coding transcript exon variant | C/A;G | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 22 | 20994629 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 22 | 20989659 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05; 7.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 20987544 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 20995983 | missense variant | G/A;C;T | snv | 2.4E-05; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 20988117 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 22 | 20995490 | splice region variant | C/T | snv | 4.1E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 22 | 20993712 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 22 | 20993977 | stop gained | G/A | snv | 1.4E-04 | 1.8E-04 | 0.700 | 0 |