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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.320 | 2 | 169493750 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.280 | 3 | 94036664 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.807 | 0.200 | 4 | 39218060 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.480 | 8 | 85109594 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.480 | 8 | 93809830 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | 11 | 103155395 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 12 | 110339638 | missense variant | T/C | snv | 0.810 | 1.000 | 7 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 110342430 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 110327725 | missense variant | G/T | snv | 0.700 | 1.000 | 6 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 110342435 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 110296666 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 110340702 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 110292122 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 110342388 | inframe deletion | ACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 110281857 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
5 | 0.851 | 0.480 | 12 | 88083848 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.776 | 0.480 | 16 | 75541466 | non coding transcript exon variant | A/G | snv | 4.2E-06 | 0.700 | 0 |