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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.826 | 46 | 2003 | 2019 | ||||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.100 | 0.929 | 14 | 1999 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.090 | 1.000 | 9 | 2010 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.070 | 0.714 | 7 | 2002 | 2019 | ||||
|
9 | 0.776 | 0.080 | 16 | 55656513 | 5 prime UTR variant | C/A;T | snv | 0.060 | 0.833 | 6 | 2008 | 2018 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2012 | 2017 | |||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2019 | ||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.820 | 1.000 | 4 | 2013 | 2019 | |||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2012 | 2016 | |||||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 67864422 | intergenic variant | G/A;C | snv | 0.720 | 1.000 | 3 | 2018 | 2019 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 0.333 | 3 | 2007 | 2019 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 135446760 | stop gained | T/A;C | snv | 0.51 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 9 | 2983774 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.120 | 1 | 197735587 | splice region variant | C/G;T | snv | 4.0E-06; 0.17 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
1 | 1.000 | 0.040 | 9 | 23737629 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 5 | 88707586 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
6 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.040 | 12 | 2311211 | intron variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2013 | 2019 |