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 | 4 | 100647799 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24064827 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 24059742 | intron variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 24069684 | intron variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 135122706 | downstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 2 | 233749231 | intron variant | T/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233749337 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 10 | 33198261 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 123093392 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233757136 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 10 | 37531016 | intron variant | G/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 14931037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 11 | 123090950 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 11 | 56597931 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 24060490 | intron variant | A/T | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 17 | 58522103 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 2 | 233755414 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 2 | 233745803 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 18 | 43300829 | intergenic variant | C/T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
4 | 2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119121264 | intron variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 3 | 119125638 | intron variant | A/G | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 92580298 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 |