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 | 13 | 37636968 | missense variant | T/C | snv | 4.8E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 13 | 37706293 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 17202049 | non coding transcript exon variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 8 | 139800104 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 1 | 3674884 | intron variant | G/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||
|
6 | 0.807 | 0.400 | 1 | 173197108 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 173194373 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.200 | 1 | 1211917 | intron variant | G/A | snv | 8.3E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.080 | 12 | 6330873 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.020 | 0.500 | 2 | 2003 | 2005 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.080 | 0.750 | 8 | 2004 | 2014 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 0.500 | 2 | 2004 | 2006 | |||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 |