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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 74789339 | 3 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 140734769 | splice acceptor variant | TCTACA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 0.800 | 1.000 | 56 | 1990 | 2017 | ||||
|
5 | 0.827 | 0.120 | 11 | 47348424 | missense variant | C/T | snv | 1.7E-05 | 4.2E-05 | 0.800 | 1.000 | 52 | 1995 | 2017 | |||
|
5 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 0.800 | 1.000 | 32 | 1995 | 2017 | ||||
|
5 | 0.851 | 0.080 | 11 | 47338520 | missense variant | C/G;T | snv | 1.6E-05 | 0.800 | 1.000 | 26 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 47351356 | missense variant | T/C | snv | 0.800 | 1.000 | 24 | 1995 | 2017 | |||||
|
4 | 0.925 | 0.080 | 11 | 47337496 | missense variant | C/T | snv | 1.5E-03 | 1.2E-03 | 0.800 | 1.000 | 24 | 1995 | 2017 | |||
|
6 | 0.807 | 0.080 | 11 | 47335996 | missense variant | G/A;T | snv | 6.8E-05; 7.9E-05 | 0.700 | 1.000 | 24 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 47347860 | missense variant | C/A;T | snv | 5.7E-06; 9.2E-05 | 0.700 | 1.000 | 24 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 47342733 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 47338631 | missense variant | G/A;T | snv | 6.0E-05 | 0.700 | 1.000 | 24 | 1995 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 47350038 | missense variant | G/A;T | snv | 5.8E-06; 5.8E-06 | 0.800 | 1.000 | 24 | 1995 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 47342697 | missense variant | C/A;T | snv | 0.800 | 1.000 | 21 | 1995 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 47338563 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | ||||
|
2 | 0.925 | 0.080 | 11 | 47335104 | missense variant | T/C;G | snv | 0.700 | 1.000 | 20 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 47332967 | missense variant | A/T | snv | 0.700 | 1.000 | 20 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 47348430 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 47346242 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 47339757 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 47335077 | missense variant | G/A;C | snv | 1.0E-03 | 8.7E-04 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
3 | 0.925 | 0.120 | 11 | 47352635 | missense variant | C/A;G | snv | 4.3E-06; 3.0E-04 | 0.700 | 1.000 | 20 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 47332144 | missense variant | C/T | snv | 3.2E-05 | 7.0E-05 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 47342683 | missense variant | C/T | snv | 6.0E-04 | 1.7E-03 | 0.700 | 1.000 | 20 | 1995 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 47332912 | missense variant | A/G | snv | 8.0E-04 | 7.5E-04 | 0.700 | 1.000 | 20 | 1995 | 2017 |