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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv | 0.070 | 1.000 | 7 | 2000 | 2014 | |||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2000 | 2012 | |||||
|
3 | 0.882 | 0.160 | 21 | 25975185 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2018 | |||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2002 | |||||
|
3 | 0.882 | 0.120 | 21 | 25891792 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2000 | 2008 | |||||
|
4 | 0.882 | 0.160 | 19 | 44909013 | missense variant | G/A | snv | 1.5E-05 | 0.020 | 1.000 | 2 | 2000 | 2012 | ||||
|
3 | 0.882 | 0.200 | 21 | 26051053 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 14 | 94614466 | missense variant | G/A;C | snv | 0.45 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 14 | 94614480 | synonymous variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
7 | 0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
4 | 0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 12 | 57156809 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv | 0.720 | 1.000 | 10 | 2001 | 2019 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.100 | 1.000 | 10 | 2001 | 2017 | |||||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.790 | 1.000 | 9 | 2001 | 2019 | |||||
|
13 | 0.732 | 0.120 | 14 | 73192712 | missense variant | G/C;T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2019 | ||||
|
3 | 0.882 | 0.120 | 21 | 26112127 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2008 | ||||
|
5 | 0.827 | 0.200 | 21 | 26090015 | missense variant | G/C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2008 | ||||
|
1 | 1.000 | 0.080 | 21 | 26051030 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.080 | 4 | 184638460 | 5 prime UTR variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.080 | 1.000 | 8 | 2002 | 2019 | ||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2002 | 2014 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 0.714 | 7 | 2002 | 2017 |