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 | 0.040 | 10 | 122582793 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 87894052 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47410322 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 9 | 22006021 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 12 | 102402539 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
12 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 2 | 216180336 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 22 | 41629346 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 2 | 216128888 | intron variant | C/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
15 | 0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 13 | 108215053 | intron variant | A/G | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.160 | 4 | 24795181 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 1 | 108150714 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 1 | 245683732 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 |