| 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 | 0.080 | 1 | 156137138 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136240 | stop gained | C/A;T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 156135313 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136027 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 1 | 12011510 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115052 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115184 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156115076 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156130641 | frameshift variant | GAT/TGGTCACCTGAGAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135262 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11992690 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 12011547 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 11998999 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156135304 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156136216 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 11998873 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 1 | 12009641 | missense variant | C/T | snv | 2.5E-04 | 2.8E-04 | 0.700 | 1.000 | 9 | 1976 | 2017 | |||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 1990 | 2014 | ||||
|
8 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1991 | 2011 | |||||
|
3 | 0.882 | 0.080 | 1 | 11992606 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 1997 | 2014 | ||||
|
5 | 0.851 | 0.080 | 1 | 161307361 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||||
|
8 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.700 | 1.000 | 10 | 1999 | 2015 |