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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 7 | 107694473 | missense variant | T/G | snv | 1.0E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 19 | 15540506 | missense variant | G/A;T | snv | 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.320 | 13 | 20189532 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 24249451 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 24260459 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 14 | 24261776 | missense variant | G/A;C | snv | 5.6E-05 | 9.1E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.120 | 17 | 41586785 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 12 | 56929456 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 56930431 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 56934150 | missense variant | C/G;T | snv | 5.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.240 | 15 | 91009812 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |