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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2001 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 1.000 | 7 | 2004 | 2015 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 102955788 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 1 | 110716148 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.120 | 1 | 26854576 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 43363065 | missense variant | G/A;T | snv | 6.1E-04; 1.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.120 | 2 | 67075611 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 52162981 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 3 | 47121125 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 |