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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.120 | 7 | 37342861 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.724 | 0.240 | 4 | 122639784 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 2 | 60960280 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.827 | 0.160 | 8 | 133201961 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 17 | 47252111 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.827 | 0.120 | 2 | 191101726 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 6 | 135581461 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.851 | 0.040 | 13 | 28029870 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 4 | 182824168 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 12 | 55975722 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.724 | 0.240 | 8 | 137124061 | regulatory region variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 16 | 11364614 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | 17 | 42333690 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42329430 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42322395 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 17 | 42331524 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42329431 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42317219 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.827 | 0.080 | 16 | 50301163 | missense variant | C/A | snv | 4.3E-03 | 3.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.040 | 3 | 187923342 | intergenic variant | T/C | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 12 | 111773070 | intron variant | A/T | snv | 7.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 2 | 2944140 | intron variant | G/A | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 12 | 40366829 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |