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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 4 | 88144923 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.240 | 18 | 63212453 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.120 | 15 | 40105735 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 1.000 | 0.080 | 17 | 43092113 | missense variant | T/C;G | snv | 2.5E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 4 | 77586643 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
11 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 12 | 32707409 | missense variant | A/T | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.120 | 11 | 119099986 | intron variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.827 | 0.160 | 11 | 119095811 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.882 | 0.280 | 1 | 11247922 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.070 | 1.000 | 7 | 2013 | 2018 |