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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.120 | X | 130137134 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 12 | 49954233 | missense variant | G/A | snv | 5.3E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
6 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.200 | 8 | 18064458 | missense variant | T/C;G | snv | 5.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 10359892 | missense variant | C/A;T | snv | 4.0E-06; 1.1E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.280 | 7 | 138771243 | missense variant | A/C;G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.120 | 1 | 100484347 | stop gained | C/A;T | snv | 1.6E-04; 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 100484440 | stop gained | C/T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 71807866 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 14 | 30878897 | missense variant | T/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.120 | 14 | 30877640 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 33165983 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 141573742 | missense variant | G/A;C;T | snv | 1.6E-05; 2.2E-05; 2.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 5 | 141573787 | missense variant | G/A;C | snv | 6.8E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.160 | 5 | 141524167 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 10 | 133370686 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |