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 | 0.080 | 4 | 177309998 | synonymous variant | C/A | snv | 0.20 | 0.20 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.120 | 22 | 23898914 | non coding transcript exon variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 2 | 218162165 | downstream gene variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.827 | 0.120 | 9 | 21853340 | intron variant | A/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 85534925 | upstream gene variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 6026173 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 55475197 | intron variant | C/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 22 | 31104550 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.720 | 1.000 | 2 | 2005 | 2007 | |||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.030 | 1.000 | 3 | 2002 | 2004 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.030 | 1.000 | 3 | 2005 | 2010 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.050 | 1.000 | 5 | 2002 | 2018 | ||||
|
7 | 0.807 | 0.160 | 21 | 31664078 | intron variant | T/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 580902 | synonymous variant | C/G;T | snv | 0.16; 2.0E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 1.000 | 4 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.080 | 12 | 6330873 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |