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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 6 | 41276002 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 36509094 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 11 | 104892390 | stop lost | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
30 | 0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 2 | 118970217 | missense variant | C/G;T | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 9 | 88989548 | upstream gene variant | T/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 0.667 | 3 | 2009 | 2014 | ||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
7 | 0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 | 0.020 | 1.000 | 2 | 2001 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 116834384 | upstream gene variant | G/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
8 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.200 | 5 | 140631730 | 3 prime UTR variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 20 | 45175881 | missense variant | A/C | snv | 0.16 | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 |