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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.851 | 0.400 | 6 | 33092341 | non coding transcript exon variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.882 | 0.160 | 5 | 157158243 | intron variant | T/C | snv | 0.42 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 0.882 | 0.240 | 6 | 32701990 | downstream gene variant | T/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.882 | 0.280 | 6 | 33093172 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 5 | 157198268 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||
|
3 | 0.925 | 0.120 | 22 | 21619030 | intron variant | C/A;T | snv | 0.18 | 0.820 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 33080917 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 22 | 21566528 | intron variant | G/C | snv | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 33081144 | non coding transcript exon variant | A/G | snv | 0.27 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.280 | 6 | 32738557 | upstream gene variant | A/G | snv | 0.80 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
6 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
3 | 0.882 | 0.200 | 6 | 32739518 | upstream gene variant | G/T | snv | 0.51 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
5 | 0.827 | 0.320 | 6 | 33082502 | intron variant | A/G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.710 | 0.500 | 2 | 2013 | 2018 | ||||
|
7 | 0.790 | 0.520 | 6 | 33087761 | 3 prime UTR variant | C/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33068100 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
12 | 0.752 | 0.440 | 13 | 108269025 | intron variant | C/T | snv | 0.35 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 32780825 | intergenic variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 |