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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.160 | 17 | 63941939 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 20 | 34292375 | missense variant | T/C | snv | 8.0E-05 | 9.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 19 | 38442362 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.160 | 12 | 48131394 | splice donor variant | G/A | snv | 1.3E-04; 4.0E-06 | 6.3E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 237826822 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 0.851 | 0.200 | 1 | 53202427 | missense variant | C/T | snv | 1.4E-03 | 1.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 7 | 44062889 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1 | 201077069 | missense variant | C/A;T | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.240 | 17 | 7223984 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.200 | 17 | 7223993 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
22 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.200 | 17 | 7224011 | missense variant | G/A;C | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 |