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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 2 | 162152278 | 5 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.160 | 6 | 151666222 | intron variant | G/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 7 | 128241246 | upstream gene variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.200 | 7 | 128241254 | upstream gene variant | A/T | snv | 8.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
8 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.742 | 0.520 | 10 | 52771740 | upstream gene variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.280 | 11 | 5227097 | 5 prime UTR variant | T/A;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.280 | 11 | 5227101 | 5 prime UTR variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.280 | 11 | 5227102 | 5 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.320 | 11 | 5234513 | 5 prime UTR variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.280 | 11 | 5227103 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.280 | 11 | 5227100 | 5 prime UTR variant | T/C | snv | 8.9E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 11 | 5234514 | 5 prime UTR variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.200 | 11 | 5227101 | 5 prime UTR variant | A/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.790 | 0.400 | 11 | 5227097 | 5 prime UTR variant | TT/- | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 |