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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 12 | 49950894 | missense variant | C/G | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
3 | 0.882 | 0.080 | 12 | 49951000 | missense variant | A/C | snv | 2.4E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 49951020 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
4 | 0.851 | 0.080 | 12 | 49954663 | missense variant | C/T | snv | 4.8E-05 | 4.9E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
2 | 0.925 | 0.080 | 12 | 49955438 | missense variant | T/C | snv | 0.700 | 1.000 | 18 | 1994 | 2014 | |||||
|
3 | 0.882 | 0.080 | 12 | 49954171 | missense variant | C/A;T | snv | 4.1E-06; 2.5E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 49951033 | missense variant | A/C;G | snv | 0.700 | 1.000 | 18 | 1994 | 2014 | |||||
|
4 | 0.851 | 0.080 | 12 | 49955564 | missense variant | G/A | snv | 0.700 | 1.000 | 18 | 1994 | 2014 | |||||
|
4 | 0.851 | 0.080 | 12 | 49954168 | missense variant | C/T | snv | 8.3E-06; 4.1E-06 | 2.1E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
4 | 0.851 | 0.200 | 12 | 49954233 | missense variant | G/A | snv | 5.3E-05 | 7.7E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
4 | 0.851 | 0.080 | 12 | 49954317 | missense variant | G/A | snv | 0.700 | 1.000 | 18 | 1994 | 2014 | |||||
|
2 | 0.925 | 0.080 | 12 | 49954647 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
3 | 0.882 | 0.080 | 12 | 49951129 | missense variant | G/T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
4 | 0.851 | 0.080 | 12 | 49955577 | missense variant | C/G;T | snv | 5.0E-06; 5.5E-05 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 49954672 | missense variant | G/A | snv | 0.700 | 1.000 | 18 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | 12 | 49951153 | missense variant | C/T | snv | 8.2E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 49954664 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
1 | 1.000 | 0.080 | 12 | 49954657 | missense variant | C/G | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 18 | 1994 | 2014 | |||
|
2 | 0.925 | 0.080 | 12 | 49954244 | missense variant | T/A;C;G | snv | 2.0E-05; 4.1E-06 | 0.700 | 1.000 | 3 | 2007 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 49954667 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 49951128 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 49954642 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 49951041 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 12 | 49954296 | missense variant | G/A;T | snv | 6.9E-05 | 0.700 | 0 |