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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 6 | 76003929 | missense variant | G/A;T | snv | 4.0E-06; 7.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 94098843 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 94111453 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 181566055 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 8 | 86578688 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 19 | 47839362 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 38285546 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 21 | 45510091 | frameshift variant | CT/- | del | 3.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 161819741 | missense variant | G/A;C | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 6 | 42704568 | missense variant | C/A;T | snv | 2.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.040 | 2 | 29073071 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.080 | 6 | 42178374 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.040 | 1 | 94001068 | missense variant | C/G;T | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.080 | 1 | 94060760 | splice acceptor variant | C/T | snv | 4.2E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 0.925 | 0.040 | 1 | 94080651 | missense variant | G/C | snv | 1.0E-04 | 3.8E-04 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.040 | 1 | 94063263 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.080 | 1 | 94044692 | stop gained | C/A;G;T | snv | 5.6E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.160 | 16 | 68679936 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
6 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 0.700 | 1.000 | 2 | 2001 | 2008 | ||||
|
1 | 1.000 | 0.040 | X | 46837109 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 1995 | 2009 | |||||
|
5 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 |