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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 17461731 | missense variant | A/G | snv | 0.810 | 1.000 | 5 | 2006 | 2007 | |||||
|
3 | 0.882 | 0.160 | 11 | 17395852 | stop gained | C/A;T | snv | 1.5E-05 | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 17474961 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
4 | 0.851 | 0.240 | 11 | 17470119 | missense variant | A/C;G | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17461778 | missense variant | G/A;T | snv | 3.2E-05 | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 17461767 | missense variant | A/C | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17453151 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17395647 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17404518 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 17461719 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 17461618 | missense variant | A/C | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2006 | 2007 | |||
|
4 | 0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 17395652 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17402718 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 11 | 17393122 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17474919 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17470109 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17461774 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17404515 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 17397205 | missense variant | C/T | snv | 1.6E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 17476643 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 | 0.700 | 0 |