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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 1 | 6281155 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.240 | 5 | 128464739 | missense variant | T/G | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.200 | 1 | 119422166 | missense variant | C/A | snv | 1.2E-05 | 0.710 | 1.000 | 18 | 1993 | 2014 | ||||
|
1 | 1.000 | 0.200 | 1 | 119422523 | missense variant | C/T | snv | 0.800 | 1.000 | 17 | 1993 | 2012 | |||||
|
1 | 1.000 | 0.200 | 1 | 119419574 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 17 | 1993 | 2012 | |||
|
1 | 1.000 | 0.200 | 1 | 119422258 | missense variant | T/A | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.200 | 1 | 119422261 | missense variant | T/A;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 17 | 1993 | 2012 | ||||
|
1 | 1.000 | 0.200 | 1 | 119415448 | missense variant | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.810 | 1.000 | 17 | 1993 | 2012 | ||||
|
3 | 0.882 | 0.200 | 1 | 119419519 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.700 | 1.000 | 17 | 1993 | 2012 | |||
|
1 | 1.000 | 0.200 | 1 | 119422019 | missense variant | T/G | snv | 2.8E-05 | 4.2E-05 | 0.710 | 1.000 | 17 | 1993 | 2012 | |||
|
3 | 0.882 | 0.200 | 1 | 119415454 | missense variant | G/A | snv | 4.0E-06 | 2.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.200 | 1 | 119422565 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.200 | 1 | 119422501 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.200 | 1 | 119422243 | missense variant | GT/AA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 119422001 | missense variant | C/A;T | snv | 4.0E-06; 1.4E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 119422208 | missense variant | T/C | snv | 3.0E-03 | 1.3E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 1 | 119421886 | missense variant | G/A | snv | 3.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 1 | 119422138 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 1 | 119421965 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 119422013 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 1 | 119422620 | stop lost | A/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 119421925 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 119422165 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.200 | 1 | 119422277 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.800 | 0 | ||||||
|
3 | 0.882 | 0.200 | 2 | 25161718 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |