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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 63407136 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 128632280 | protein altering variant | -/GCATGC | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 20 | 49374703 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165380702 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 2 | 165310515 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 12 | 51768895 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165309193 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 20 | 49374559 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 49374455 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 166054735 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 20 | 63442424 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 165994177 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 127651622 | inframe deletion | AAA/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 165992262 | frameshift variant | ACAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 244855505 | frameshift variant | AG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 18604845 | frameshift variant | AG/- | del | 0.700 | 0 |