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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 22 | 32709831 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 22 | 38080269 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 20 | 45986353 | regulatory region variant | TTCT/-;TTCTTTCT | delins | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 20 | 58078668 | regulatory region variant | -/A | delins | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
4 | 0.851 | 0.040 | 19 | 5835666 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 19 | 1031439 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 19 | 45245104 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.040 | 17 | 28322698 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 17 | 81559795 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 16 | 10491493 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 16 | 56963437 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.827 | 0.080 | 15 | 58388755 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 14 | 68520282 | intron variant | G/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 14 | 68302482 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 14 | 57220928 | intron variant | A/C | snv | 4.5E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 13 | 39504403 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 13 | 31247103 | splice region variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 |