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 | 6 | 31979250 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 1 | 196411028 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 1 | 196989521 | intron variant | C/G;T | snv | 4.6E-03 | 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 | ||||
|
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 | ||||
|
10 | 0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 | 0.700 | 1.000 | 2 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.040 | 10 | 122467114 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 6 | 44003090 | synonymous variant | G/A | snv | 5.0E-02 | 3.9E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
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 | |||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 16 | 10491493 | upstream gene variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 14 | 68520282 | intron variant | G/A | snv | 0.90 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 12 | 55721994 | 3 prime UTR variant | C/A | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 1 | 196737512 | synonymous variant | C/T | snv | 1.0E-02 | 8.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 10 | 122456049 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 2 | 48825116 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 3 | 99701009 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.040 | 1 | 196687934 | intron variant | T/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | 16 | 56963437 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 175376466 | intron variant | -/AGAGT | ins | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 1 | 196846320 | upstream gene variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 |