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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.060 | 1.000 | 6 | 2009 | 2017 | ||||
|
10 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 31115733 | downstream gene variant | T/C | snv | 0.56 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
4 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 82820719 | 3 prime UTR variant | A/C | snv | 0.57 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 215188864 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.040 | 11 | 27674363 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 215216266 | intron variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 11 | 27661764 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463564 | 5 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.160 | 7 | 136958947 | intron variant | C/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 7 | 136976653 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 21 | 46431839 | missense variant | A/G | snv | 0.63 | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 21 | 46443844 | missense variant | A/C | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 7 | 82849099 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.080 | 7 | 137008914 | intron variant | T/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 4 | 55443825 | synonymous variant | A/G | snv | 0.70 | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 21 | 46413875 | intron variant | G/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 17 | 63476980 | upstream gene variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 1 | 66335081 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 3 | 143367401 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |