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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.724 | 0.360 | 17 | 7674885 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
4 | 0.851 | 0.200 | 17 | 7673766 | missense variant | T/A | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.851 | 0.200 | 6 | 131952117 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 18 | 47856234 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.120 | 18 | 48932953 | intron variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.120 | 18 | 48932662 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 15 | 67093131 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 30656417 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 18251196 | non coding transcript exon variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 |