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 | 1.000 | 19 | 13298827 | stop gained | G/A;C | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||
|
4 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
4 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 0.700 | 1.000 | 30 | 1996 | 2018 | ||||||
|
3 | 0.925 | 1 | 22086456 | missense variant | A/G | snv | 0.700 | 1.000 | 30 | 1993 | 2015 | ||||||
|
5 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
4 | 0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
3 | 1.000 | 19 | 41970483 | missense variant | G/T | snv | 0.700 | 1.000 | 27 | 1988 | 2017 | ||||||
|
6 | 0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv | 0.700 | 1.000 | 26 | 1985 | 2017 | |||||
|
4 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 0.700 | 1.000 | 26 | 1997 | 2017 | ||||||
|
3 | 1.000 | 3 | 9447684 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 26 | 1995 | 2018 | ||||||
|
1 | 12 | 49032761 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||||
|
2 | 1.000 | 12 | 49046358 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||
|
5 | 0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||
|
2 | 1.000 | 12 | 49026431 | missense variant | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||
|
1 | 12 | 109788404 | missense variant | A/C | snv | 0.700 | 1.000 | 24 | 1976 | 2017 | |||||||
|
17 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 0.700 | 1.000 | 24 | 1976 | 2017 | |||||
|
4 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||||
|
3 | 1.000 | 11 | 118472681 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 22 | 1989 | 2017 | |||||
|
3 | 1.000 | 3 | 41235763 | missense variant | G/A | snv | 0.700 | 1.000 | 22 | 1991 | 2017 | ||||||
|
4 | 0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 1989 | 2017 | |||||
|
4 | 0.882 | 0.200 | X | 77589902 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 1992 | 2017 | |||||
|
11 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 0.700 | 1.000 | 21 | 2002 | 2016 | |||||
|
4 | 1.000 | X | 77593803 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 1992 | 2017 | ||||||
|
3 | 0.925 | 0.160 | 2 | 39056704 | missense variant | T/C | snv | 0.700 | 1.000 | 21 | 2002 | 2016 |