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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.360 | 1 | 67189464 | intron variant | G/A | snv | 0.29 | 0.050 | 1.000 | 5 | 2010 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.830 | 0.800 | 5 | 2010 | 2017 | ||||
|
3 | 0.882 | 0.240 | 1 | 67294457 | intergenic variant | T/C | snv | 0.45 | 0.840 | 0.800 | 5 | 2010 | 2019 | ||||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.830 | 1.000 | 4 | 2010 | 2015 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.200 | 6 | 31381371 | downstream gene variant | G/A | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
8 | 0.790 | 0.280 | 1 | 67287825 | intergenic variant | C/T | snv | 0.55 | 0.820 | 1.000 | 3 | 2010 | 2017 | ||||
|
7 | 0.827 | 0.440 | 3 | 159947262 | intron variant | A/G | snv | 8.2E-02 | 0.810 | 1.000 | 3 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.200 | 2 | 191145762 | intron variant | A/C | snv | 0.55 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2000 | 2013 | |||||
|
1 | 1.000 | 0.200 | 1 | 67281340 | downstream gene variant | G/C | snv | 0.23 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
3 | 0.882 | 0.360 | 6 | 31369093 | intron variant | C/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.710 | 0.500 | 2 | 2013 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
5 | 0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
2 | 0.925 | 0.280 | 6 | 31131800 | intron variant | G/A | snv | 6.3E-02 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 0.925 | 0.280 | 3 | 46164194 | intron variant | C/T | snv | 0.62 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.200 | 6 | 31368641 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
5 | 0.925 | 0.200 | 6 | 31368791 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
6 | 0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.200 | 7 | 150548168 | intergenic variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 7 | 150653887 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 |