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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 1.000 | 10 | 2011 | 2018 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.730 | 1.000 | 4 | 2011 | 2017 | ||||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.720 | 0.667 | 3 | 2014 | 2017 | ||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2020 | |||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 31749079 | intron variant | C/T | snv | 7.8E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
2 | 1.000 | 0.040 | 8 | 31637858 | upstream gene variant | G/A | snv | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.040 | 18 | 55083238 | intergenic variant | A/G | snv | 0.39 | 0.710 | 1.000 | 2 | 2012 | 2014 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2008 | 2009 | |||||
|
2 | 1 | 29958713 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.040 | 1 | 183277955 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 2 | 133247997 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 7 | 156255955 | intergenic variant | T/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
7 | 0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1 | 92913536 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.040 | 9 | 118597008 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 9 | 118597268 | intergenic variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.040 | 2 | 102959630 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 |