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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 169023668 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2013 | 2016 | |||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 1.000 | 0.080 | 11 | 34437314 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 10 | 102837224 | synonymous variant | G/A | snv | 0.42 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1.000 | 0.080 | 10 | 102837167 | synonymous variant | C/A;T | snv | 0.40; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.752 | 0.280 | 15 | 51215771 | missense variant | G/A | snv | 7.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 19 | 45364860 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 6 | 152061061 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.742 | 0.320 | 1 | 109737079 | missense variant | C/T | snv | 4.0E-06; 0.35 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 67586108 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 16 | 72054568 | 5 prime UTR variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 5059440 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 5003338 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 9 | 84285454 | missense variant | T/A;C | snv | 7.2E-02; 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 0.882 | 0.200 | 2 | 27201768 | missense variant | G/A | snv | 0.62 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2013 | 2013 |