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 | 1 | 196652175 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 196673000 | frameshift variant | GAAA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 196679712 | frameshift variant | GT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 196690101 | missense variant | C/A | snv | 1.0E-04 | 1.9E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 196690221 | frameshift variant | CCCAGATGCA/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 196725249 | missense variant | G/A | snv | 2.8E-04 | 4.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 196726614 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 1998 | 2010 | ||||||
|
1 | 1.000 | 1 | 196728506 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 1 | 196736958 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2010 | |||||
|
1 | 1.000 | 1 | 196737575 | stop gained | T/A;C | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 196740686 | missense variant | G/A;T | snv | 8.0E-06; 3.9E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 196740687 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 8 | 1998 | 2010 | ||||
|
1 | 1.000 | 1 | 196740703 | missense variant | C/T | snv | 1.3E-03 | 1.3E-03 | 0.700 | 1.000 | 8 | 1998 | 2010 | ||||
|
1 | 1.000 | 1 | 196740786 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 196747131 | stop gained | G/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 1 | 196747183 | missense variant | T/G | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||||
|
2 | 0.925 | 0.120 | 1 | 196747189 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||
|
1 | 1.000 | 1 | 196747198 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 1998 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 196747207 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||
|
2 | 0.925 | 0.120 | 1 | 196747209 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 1 | 196747260 | stop gained | C/G;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||||
|
1 | 1.000 | 1 | 196747291 | stop lost | CAACTTGTGCAAAAAGATAGAATC/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 12 | 8059829 | frameshift variant | -/TC | delins | 0.700 | 0 |