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 | 0.040 | 6 | 30163346 | 5 prime UTR variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 17 | 47731941 | upstream gene variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.080 | 6 | 137219383 | 5 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 32390493 | non coding transcript exon variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 5 | 159328122 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 39928097 | intron variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 32396234 | missense variant | T/C | snv | 2.3E-02 | 9.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 161521106 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 7 | 107815875 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 50013342 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 21 | 33403138 | 5 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.080 | 16 | 50301163 | missense variant | C/A | snv | 4.3E-03 | 3.6E-03 | 0.700 | 1.000 | 2 | 2017 | 2017 | |||
|
4 | 1.000 | 0.040 | 7 | 1541881 | 3 prime UTR variant | T/C | snv | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 10 | 124750812 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 19780778 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 16 | 81883307 | missense variant | A/G | snv | 2.5E-02 | 2.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.040 | 1 | 67242007 | intron variant | G/A | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 19 | 54871595 | upstream gene variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 79285450 | intron variant | T/C | snv | 0.44 | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 22 | 35333728 | intron variant | G/A | snv | 0.49 | 0.700 | 1.000 | 1 | 2017 | 2017 |