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 | 14 | 81143633 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 81092547 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-04 | 0.800 | 1.000 | 12 | 1995 | 2015 | ||||
|
1 | 1.000 | 0.120 | 14 | 81142986 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 81143028 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 81143488 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 81062179 | missense variant | C/T | snv | 5.4E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 14 | 81143695 | stop gained | G/A | snv | 1.1E-04 | 2.0E-04 | 0.700 | 1.000 | 4 | 1996 | 2004 | |||
|
1 | 1.000 | 0.120 | 14 | 81087962 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 81143286 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 0.710 | 1.000 | 10 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 81143715 | missense variant | G/A;T | snv | 3.2E-05; 8.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2016 | ||||
|
5 | 0.827 | 0.120 | 15 | 45106327 | missense variant | G/A;T | snv | 3.2E-05; 6.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.160 | 14 | 80955802 | missense variant | G/C | snv | 4.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 14 | 81092611 | splice region variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 14 | 81092563 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 2 | 162282494 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 81143856 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 81143458 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 81143228 | missense variant | T/G | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 |