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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156134892 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156134500 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156136081 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 4 | 173529091 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115096 | missense variant | C/G;T | snv | 0.800 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156137183 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 1 | 156136251 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | 1 | 156138507 | missense variant | C/T | snv | 1.5E-04 | 1.0E-04 | 0.800 | 0 | ||||||
|
4 | 0.851 | 0.160 | 1 | 156135293 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 47337580 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 86692112 | intron variant | G/C | snv | 0.19 | 0.14 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 1997 | 1997 | |||
|
1 | 1.000 | 0.040 | 10 | 86681952 | intron variant | A/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 1997 | 2007 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 0.500 | 2 | 1997 | 2007 |