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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 19 | 7125437 | missense variant | C/A | snv | 0.800 | 1.000 | 17 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 7143072 | missense variant | C/A | snv | 0.800 | 1.000 | 17 | 1988 | 2017 | |||||
|
2 | 1.000 | 0.120 | 19 | 7122662 | missense variant | C/T | snv | 0.800 | 1.000 | 17 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 7119563 | stop gained | C/G;T | snv | 0.800 | 1.000 | 17 | 1988 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 7170554 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 17 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 7125482 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 17 | 1988 | 2017 | |||
|
1 | 1.000 | 0.120 | 19 | 7122658 | missense variant | G/A;T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 7120677 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.120 | 19 | 7172333 | missense variant | A/C | snv | 0.700 | 1.000 | 17 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 7120665 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 7120620 | missense variant | C/A | snv | 0.700 | 1.000 | 17 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 7117072 | missense variant | C/G;T | snv | 1.2E-05; 3.5E-04 | 0.700 | 1.000 | 17 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.120 | 19 | 7125381 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 7170555 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 7125462 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 7267518 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 19 | 7184454 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 7267498 | missense variant | C/A;T | snv | 0.700 | 0 |