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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 11 | 2011 | 2020 | ||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.040 | 1.000 | 4 | 2015 | 2020 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.040 | 6 | 26225549 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.040 | 1 | 75898031 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 6 | 27810468 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.040 | 6 | 26196856 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |