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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1999 | 2014 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.060 | 1.000 | 6 | 2000 | 2019 | |||
|
6 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
8 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.040 | 1.000 | 4 | 2001 | 2010 | |||
|
6 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.100 | 0.929 | 14 | 2003 | 2019 | |||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2003 | 2014 | ||||
|
9 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
3 | 0.925 | 0.040 | 22 | 42126851 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 4 | 147542603 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.040 | 1.000 | 4 | 2007 | 2018 | |||
|
3 | 0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 |