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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 442675 | non coding transcript exon variant | G/A;T | snv | 9.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 5 | 139383837 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 5 | 132393705 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.040 | 7 | 1541881 | 3 prime UTR variant | T/C | snv | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 19 | 41755151 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 19 | 41776424 | intron variant | G/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.160 | 12 | 50992283 | synonymous variant | A/G | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 16 | 50716670 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.080 | 7 | 150860577 | missense variant | C/G;T | snv | 0.37 | 0.37 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.080 | X | 127010099 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 1 | 247432548 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 7 | 6382925 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.240 | 1 | 157700967 | upstream gene variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 3 | 124908177 | missense variant | T/G | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.040 | 3 | 49828959 | 3 prime UTR variant | C/A;T | snv | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 |