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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 234898985 | intron variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.900 | 0.714 | 14 | 2009 | 2016 | ||||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.020 | 0.500 | 2 | 2014 | 2016 | |||
|
1 | 1.000 | 0.040 | 10 | 67157406 | intron variant | A/G | snv | 0.63 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 6 | 89198164 | missense variant | A/G | snv | 5.2E-04 | 2.1E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | X | 125567397 | intergenic variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 16 | 4476291 | 5 prime UTR variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 67090661 | intron variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2017 | 2018 | |||||
|
2 | 1.000 | 0.040 | 3 | 98007903 | stop gained | A/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.851 | 0.080 | 10 | 102238914 | intron variant | A/T | snv | 0.66 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 77673826 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 16993092 | missense variant | C/A;T | snv | 4.0E-05; 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 4 | 176321808 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.200 | 9 | 113391611 | missense variant | C/G | snv | 8.3E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
11 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 8 | 16992989 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 16 | 31185061 | missense variant | C/G;T | snv | 1.3E-04; 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |