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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | 3 | 119431989 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 8 | 63477322 | non coding transcript exon variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.360 | 1 | 113830881 | intron variant | A/C;G | snv | 0.56 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 220589153 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 17 | 55977164 | intron variant | A/C | snv | 4.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.360 | 12 | 6330843 | non coding transcript exon variant | T/C | snv | 0.36; 4.0E-06 | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
5 | 0.882 | 0.160 | 19 | 15192134 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 1 | 88754789 | intron variant | G/A | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
9 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.320 | Y | 18991182 | intron variant | CA/- | del | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 18 | 7584296 | intron variant | G/A | snv | 0.39 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.080 | 17 | 39710398 | missense variant | C/T | snv | 1.6E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 88873739 | intron variant | C/T | snv | 0.93 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.030 | 0.333 | 3 | 2014 | 2018 |