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 | 19 | 33302225 | frameshift variant | TGTCG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 28018504 | missense variant | TC/AA | mnv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.800 | 5 | 2006 | 2019 | |||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 23958610 | intergenic variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 104778862 | intron variant | T/G | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 5 | 111573636 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 29497974 | intergenic variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 13777437 | intergenic variant | T/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 93765190 | intergenic variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 70612970 | intron variant | T/G | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 7 | 31337755 | 3 prime UTR variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 122392035 | intron variant | T/G | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 122392908 | 3 prime UTR variant | T/G | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 87906103 | intergenic variant | T/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 19 | 14951411 | intron variant | T/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 99124349 | 3 prime UTR variant | T/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 6 | 26031583 | upstream gene variant | T/G | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 20 | 14707123 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 209072514 | intergenic variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 16 | 64300382 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 12 | 55378404 | intron variant | T/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 57100577 | intron variant | T/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |