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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 7 | 30897563 | intron variant | T/A;C | snv | 0.830 | 1.000 | 3 | 2012 | 2017 | |||||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.830 | 1.000 | 3 | 2012 | 2017 | |||
|
3 | 0.925 | 0.120 | 13 | 42180386 | intron variant | T/C | snv | 0.34 | 0.830 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 13 | 42115924 | intron variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2012 | 2013 | |||||
|
3 | 0.882 | 0.200 | 3 | 190408416 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 240868986 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.280 | 2 | 70958113 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 97635322 | intergenic variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 42735969 | missense variant | C/T | snv | 1.1E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 15 | 48244876 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 2 | 240878721 | missense variant | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 2 | 240871406 | missense variant | G/A;C;T | snv | 1.8E-05; 1.3E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 5 | 177387874 | splice donor variant | G/A | snv | 7.8E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177398090 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177396762 | missense variant | G/C | snv | 2.8E-05 | 1.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 9 | 37426659 | splice region variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 2 | 44280877 | frameshift variant | G/- | del | 2.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 15 | 48234946 | frameshift variant | T/- | delins | 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 9 | 37424862 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 15 | 48229233 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 13 | 42103102 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 13 | 42124943 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 |