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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 89791478 | intron variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.120 | 5 | 150070569 | missense variant | T/C | snv | 9.9E-02 | 8.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 10 | 102231987 | missense variant | C/G;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 5 | 75998585 | intergenic variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 7 | 100622306 | intron variant | G/A | snv | 0.88 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.120 | 19 | 38894892 | intron variant | T/C | snv | 0.68 | 0.67 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 20650507 | missense variant | A/C | snv | 0.29 | 0.28 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 233485841 | missense variant | G/A;T | snv | 0.32; 1.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 4 | 17511987 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 3 | 133775510 | missense variant | C/T | snv | 0.16 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.080 | 7 | 150860577 | missense variant | C/G;T | snv | 0.37 | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 16 | 4510300 | 3 prime UTR variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 148489766 | synonymous variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.120 | 16 | 31183958 | synonymous variant | C/T | snv | 0.53 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 17 | 5583798 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |