| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 5 | 177292124 | missense variant | C/G;T | snv | 7.6E-05 | 0.800 | 1.000 | 4 | 2002 | 2004 | ||||
|
1 | 1.000 | 0.040 | 5 | 177293916 | missense variant | G/C | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | |||||
|
2 | 0.925 | 0.040 | 5 | 177282523 | missense variant | G/A;C | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | |||||
|
2 | 0.925 | 0.040 | 5 | 177283791 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | |||||
|
2 | 0.925 | 0.040 | 5 | 177283826 | missense variant | C/A;T | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | |||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2002 | 2004 | |||||
|
1 | 1.000 | 0.040 | 5 | 177282522 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2005 | 2016 | |||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 177292061 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 177210230 | stop gained | C/G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 5 | 177260120 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 5 | 177269729 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 5 | 177210141 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.040 | 5 | 177295334 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 5 | 177293901 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 177211437 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177209948 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177209709 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177238273 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177293973 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177210272 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 177210710 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177211403 | frameshift variant | AA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177211433 | stop gained | -/TTCAGACTGTGTTACTAGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 177238235 | splice acceptor variant | AGGTAA/G | delins | 0.700 | 0 |