Source: ALL
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 | 0.120 | 5 | 1294282 | missense variant | C/T | snv | 3.2E-04 | 1.8E-04 | 0.800 | 1.000 | 5 | 2005 | 2012 | |||
|
3 | 0.882 | 0.120 | 5 | 1279341 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 2005 | 2012 | ||||
|
2 | 0.925 | 0.120 | 5 | 1272252 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2005 | 2012 | |||||
|
3 | 0.882 | 0.160 | 5 | 1266524 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 0.800 | 1.000 | 5 | 2005 | 2012 | |||
|
1 | 1.000 | 5 | 1278781 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2005 | 2012 | ||||||
|
1 | 1.000 | 5 | 1264542 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2005 | 2012 | ||||||
|
1 | 1.000 | 5 | 1264479 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 2005 | 2012 | |||||
|
4 | 0.851 | 0.120 | 5 | 1254395 | missense variant | C/T | snv | 5.2E-05 | 9.1E-05 | 0.700 | 1.000 | 5 | 2005 | 2012 | |||
|
2 | 0.925 | 0.040 | 5 | 1272196 | missense variant | C/T | snv | 9.0E-05 | 1.5E-04 | 0.700 | 1.000 | 5 | 2005 | 2012 | |||
|
1 | 1.000 | 5 | 1294378 | missense variant | C/T | snv | 5.4E-06 | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
1 | 1.000 | 5 | 1253728 | stop lost | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 5 | 1279370 | missense variant | T/C | snv | 1.6E-04 | 1.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 5 | 1266537 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 1294306 | stop gained | GG/AA | mnv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 5 | 1278687 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 1294770 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 5 | 1266519 | missense variant | C/A;T | snv | 4.1E-06 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 5 | 1293652 | missense variant | G/A;T | snv | 3.3E-03; 6.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 5 | 1294826 | missense variant | A/T | snv | 0.700 | 0 |