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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
10 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 3 | 9734500 | frameshift variant | AG/- | delins | 0.700 | 0 | |||||||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 6 | 27873237 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.040 | 10 | 87960997 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 10 | 129877788 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.120 | 14 | 28768203 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 14 | 36517838 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
5 | 0.882 | 0.240 | X | 102937494 | missense variant | A/G | snv | 5.4E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.040 | X | 15321727 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |