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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 4 | 112427580 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1 | 161171095 | stop gained | T/C;G | snv | 8.0E-06 | 6.3E-05 | 0.700 | 0 | ||||||||
|
18 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 19 | 15188277 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 1.000 | 0.040 | 15 | 42403721 | intron variant | C/G | snv | 3.1E-03; 2.4E-05 | 3.1E-03 | 0.700 | 0 | ||||||
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.320 | 9 | 2115927 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
27 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 0 | ||||||
|
26 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 19 | 13261526 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
21 | 0.827 | 0.120 | 15 | 42387803 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 7 | 143330868 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 3 | 184140584 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 |