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 | 13 | 41565109 | downstream gene variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 6 | 32602624 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 17 | 59755030 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.742 | 0.320 | 11 | 65504361 | splice region variant | C/T | snv | 0.17 | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.200 | 1 | 53211185 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 12 | 664290 | upstream gene variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 130068795 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 2 | 32264089 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 6 | 32614145 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 76077013 | missense variant | G/T | snv | 6.2E-03 | 6.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
15 | 0.724 | 0.360 | 11 | 65498698 | non coding transcript exon variant | A/G | snv | 5.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 5 | 41474473 | intron variant | T/C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.120 | 3 | 7457960 | intron variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 |