| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 9 | 104376689 | intergenic variant | A/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 4 | 161890417 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 134127023 | intergenic variant | C/A;T | snv | 3.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 11 | 133925624 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 6 | 91209048 | intergenic variant | C/T | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 15 | 77516256 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 10 | 119445148 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.080 | 7 | 84008281 | intron variant | A/G | snv | 5.2E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 38396880 | stop gained | C/T | snv | 1.0E-03; 4.0E-06 | 1.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 9 | 84713003 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 13944536 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 4 | 161903214 | intron variant | G/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.160 | 4 | 99353129 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 11 | 18705901 | missense variant | T/C | snv | 3.5E-02 | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.080 | 3 | 122392714 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 1 | 38927359 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 3 | 114139354 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 20 | 23036445 | missense variant | T/A;C | snv | 2.8E-05; 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 111473151 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 10 | 124546821 | intron variant | G/C | snv | 0.24 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 9 | 5377115 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.080 | 2 | 197349672 | intergenic variant | C/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 13 | 73887725 | intron variant | -/A;AA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 |