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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 5 | 1212338 | missense variant | G/A | snv | 1.6E-03 | 1.7E-03 | 0.810 | 1.000 | 6 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1201846 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2009 | ||||
|
1 | 1.000 | 0.200 | 5 | 1213972 | missense variant | C/T | snv | 6.8E-05 | 1.5E-04 | 0.700 | 1.000 | 5 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1213524 | missense variant | T/C | snv | 5.2E-05 | 4.3E-05 | 0.700 | 1.000 | 5 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1214028 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1221162 | missense variant | A/G | snv | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1208820 | missense variant | G/A;T | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2004 | 2009 | ||||
|
1 | 1.000 | 0.200 | 5 | 1201819 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 1.000 | 5 | 2004 | 2009 | ||||
|
1 | 1.000 | 0.200 | 5 | 1218942 | missense variant | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 5 | 2004 | 2009 | |||
|
1 | 1.000 | 0.200 | 5 | 1213517 | stop gained | C/T | snv | 4.4E-05 | 4.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 5 | 1219627 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 5 | 1216652 | missense variant | C/T | snv | 1.5E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 5 | 1216947 | splice donor variant | T/C;G | snv | 8.0E-06; 3.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 5 | 1221735 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 5 | 1213518 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 5 | 1214060 | frameshift variant | TG/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 |