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 | 0.080 | 1 | 24155984 | 3 prime UTR variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 3 | 107912675 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 4 | 99574424 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 195870036 | 3 prime UTR variant | T/C;G | snv | 0.44; 2.7E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.752 | 0.360 | 21 | 33268483 | missense variant | A/G | snv | 0.33 | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
15 | 0.732 | 0.360 | 19 | 7747847 | upstream gene variant | A/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||
|
4 | 0.851 | 0.160 | 12 | 4273870 | 5 prime UTR variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
34 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.120 | 5 | 135576874 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 12 | 104028030 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.200 | 4 | 73870427 | intron variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.160 | 19 | 39241861 | upstream gene variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 6 | 35534425 | TF binding site variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.030 | 1.000 | 3 | 2011 | 2013 | |||
|
3 | 0.925 | 0.080 | 19 | 39253181 | upstream gene variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 |