| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.090 | 1.000 | 9 | 2001 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2004 | 2018 | |||
|
4 | 0.925 | 0.080 | 3 | 12416836 | missense variant | G/A | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
11 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
4 | 0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.200 | 9 | 117704539 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 12 | 6075370 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 1.000 | 0.040 | 17 | 82736023 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 7 | 151009295 | intron variant | C/A;G;T | snv | 0.83; 4.0E-05; 3.1E-05; 4.4E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1 | 100724804 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 33058188 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 11227257 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 |