| 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 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 2 | 112833698 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.040 | 11 | 102845217 | upstream gene variant | A/-;AA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.320 | 6 | 29830804 | 3 prime UTR variant | -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.120 | 1 | 230713948 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 12 | 112446327 | synonymous variant | A/G | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 20 | 3865750 | missense variant | C/T | snv | 0.16 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | 12 | 47846347 | missense variant | T/C | snv | 2.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 12 | 56346844 | stop gained | G/C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 |