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 | 0.080 | 12 | 47982142 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 1989 | 2001 | |||||
|
1 | 1.000 | 0.080 | 12 | 47975971 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 1989 | 2001 | |||||
|
14 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1989 | 2001 | |||||
|
2 | 0.925 | 0.080 | 12 | 47980017 | missense variant | C/G | snv | 0.700 | 1.000 | 8 | 1989 | 2001 | |||||
|
1 | 1.000 | 0.080 | 12 | 47976043 | missense variant | C/G | snv | 0.800 | 1.000 | 8 | 1989 | 2001 | |||||
|
2 | 0.925 | 0.080 | 12 | 47974090 | missense variant | G/A;T | snv | 8.0E-05 | 0.800 | 1.000 | 8 | 1989 | 2001 | ||||
|
4 | 0.882 | 0.080 | 12 | 47986353 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 12 | 47978605 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.080 | 12 | 47977128 | stop gained | C/A;T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 12 | 47985772 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | X | 13716080 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13714501 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 12 | 47980616 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13714439 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 10 | 72007935 | missense variant | G/A;C | snv | 6.9E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 47989236 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47973418 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47983410 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13719866 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13716530 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.080 | 10 | 72007522 | missense variant | C/G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
14 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13719910 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 13716580 | frameshift variant | CA/- | delins | 0.700 | 0 |