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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2019 | |||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.925 | 0.400 | 3 | 167704889 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1 | 161626229 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | 11 | 102955390 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
7 | 0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 8 | 143728570 | stop gained | A/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 136500595 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 0.882 | 0.080 | 7 | 19116972 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.160 | 12 | 31089147 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 2 | 207567506 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
14 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 3 | 55488911 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 55491957 | upstream gene variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |