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 | ||||
|
18 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
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 | 0.040 | 1.000 | 4 | 2004 | 2010 | |||
|
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 | 0.400 | 1 | 209792242 | intron variant | G/A;C;T | snv | 3.2E-05; 0.41; 4.3E-04 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
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 | ||||
|
5 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 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 | |||
|
6 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 14 | 53952392 | intron variant | G/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 2 | 70450307 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.200 | 20 | 40640434 | regulatory region variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.200 | 17 | 28398728 | 3 prime UTR variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 22 | 36288308 | missense variant | T/C | snv | 0.26 | 0.18 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.851 | 0.200 | 2 | 70450336 | 3 prime UTR variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.200 | 5 | 31436933 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 1 | 94087882 | intron variant | C/T | snv | 0.53 | 0.010 | < 0.001 | 1 | 2010 | 2010 |