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 | 0.925 | 0.320 | 8 | 38417962 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 38414840 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 8 | 38421840 | frameshift variant | AG/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 38414001 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 8 | 38421859 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 8 | 38413714 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 |