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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.700 | 1.000 | 4 | 2011 | 2016 | |||
|
3 | 0.882 | 0.200 | X | 85255275 | frameshift variant | -/A | delins | 0.700 | 1.000 | 2 | 2009 | 2017 | |||||
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.160 | 11 | 1451405 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 15 | 76471314 | frameshift variant | ATTG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.200 | 14 | 28767822 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.160 | 13 | 35157262 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.160 | 13 | 35550528 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 6 | 85533701 | frameshift variant | -/AAAAAAAAAAA | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.160 | 10 | 180034 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 47848246 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 12 | 79448958 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | 14 | 88841196 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 15 | 76381427 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 15 | 76753813 | inframe deletion | CTT/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 |