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 | 0.040 | 0.750 | 4 | 1998 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
19 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
17 | 0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 0.030 | 1.000 | 3 | 2010 | 2012 | ||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
11 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 0.740 | 1.000 | 5 | 2004 | 2015 | |||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
8 | 0.790 | 0.320 | 14 | 53950804 | stop lost | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 | 0.800 | 1.000 | 4 | 2009 | 2012 | ||||
|
7 | 0.807 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
6 | 0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.200 | 16 | 84838445 | 5 prime UTR variant | G/A;C | snv | 8.6E-06; 0.67 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.807 | 0.200 | 10 | 117075480 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.280 | 1 | 209795339 | synonymous variant | C/A;T | snv | 0.41; 1.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.320 | 1 | 165728096 | frameshift variant | GC/- | del | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 10 | 117068049 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 5 | 2010 | 2018 |