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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 5 | 132527285 | intron variant | T/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 9 | 6254467 | missense variant | G/A | snv | 2.9E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.807 | 0.280 | 6 | 32108722 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 4 | 54258785 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.160 | 5 | 111099792 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 3 | 128532835 | TF binding site variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.851 | 0.160 | 11 | 36593483 | missense variant | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
25 | 0.827 | 0.120 | 13 | 28672407 | frameshift variant | AT/- | delins | 0.700 | 0 | ||||||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||
|
4 | 0.882 | 0.120 | 5 | 112775679 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||
|
4 | 0.882 | 0.120 | 3 | 122106342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 2 | 212959321 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 3 | 128481887 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |