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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 11 | 1307121 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.160 | 11 | 1302334 | intron variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 32613805 | intergenic variant | C/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 32637832 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
8 | 0.790 | 0.200 | 5 | 150848436 | synonymous variant | C/T | snv | 0.17 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 80629494 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 58583857 | 3 prime UTR variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 7 | 80602188 | 5 prime UTR variant | G/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 137219938 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 137215318 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.742 | 0.320 | 12 | 68156382 | intron variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 3 | 50610457 | 5 prime UTR variant | T/G | snv | 9.6E-02 | 7.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.160 | 7 | 80674446 | intron variant | T/G | snv | 6.7E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 3691244 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |