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 | 0.120 | 20 | 10413051 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 10405407 | missense variant | C/T | snv | 3.1E-04 | 1.4E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 20 | 10413360 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 10413234 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 20 | 10412723 | stop gained | A/C;G;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 20 | 10412806 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.240 | 20 | 10407704 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.440 | 20 | 10412791 | missense variant | C/A | snv | 5.2E-03 | 5.0E-03 | 0.710 | 1.000 | 18 | 2000 | 2017 | |||
|
2 | 0.925 | 0.120 | 20 | 10413220 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.120 | 20 | 10405486 | missense variant | C/A;G;T | snv | 8.0E-06; 2.4E-05; 3.0E-04 | 0.700 | 1.000 | 17 | 2000 | 2017 | ||||
|
2 | 0.925 | 0.120 | 20 | 10405464 | missense variant | C/G | snv | 0.700 | 1.000 | 17 | 2000 | 2017 | |||||
|
5 | 0.827 | 0.240 | 20 | 10413405 | missense variant | T/C | snv | 6.8E-05 | 1.1E-04 | 0.800 | 1.000 | 17 | 2000 | 2017 | |||
|
1 | 1.000 | 0.120 | 20 | 10412685 | missense variant | A/G | snv | 6.4E-05 | 6.3E-05 | 0.800 | 1.000 | 17 | 2000 | 2017 | |||
|
2 | 0.925 | 0.240 | 20 | 10413346 | missense variant | T/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 17 | 2000 | 2017 | |||
|
1 | 1.000 | 0.120 | 20 | 10412619 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.120 | 20 | 10413394 | missense variant | C/G | snv | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 17 | 2000 | 2017 | |||
|
1 | 1.000 | 0.120 | 20 | 10408755 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 2000 | 2017 | ||||
|
2 | 0.925 | 0.320 | 14 | 88857230 | missense variant | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.400 | 20 | 10413265 | missense variant | G/A | snv | 4.0E-06 | 2.4E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.320 | 3 | 97780679 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.320 | 15 | 72731386 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |