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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 1 | 15506000 | missense variant | T/G | snv | 1.4E-03; 8.0E-06 | 1.4E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.160 | 8 | 127736607 | missense variant | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 20 | 63667537 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.160 | 8 | 127738519 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 8 | 127738437 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 8 | 127738431 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.200 | 3 | 49375576 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.790 | 0.240 | 1 | 9726972 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.280 | 7 | 5986933 | frameshift variant | -/T | delins | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.320 | 7 | 5997388 | stop gained | AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN | delins | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 |