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 | 22 | 39087839 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 5 | 109205522 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 6 | 38723032 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 15 | 39582202 | missense variant | G/C | snv | 6.3E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.925 | 2 | 40840846 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 1 | 109923705 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
16 | 0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 3 | 46373290 | missense variant | G/A | snv | 1.8E-04 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.080 | 11 | 32399873 | intron variant | T/C | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.925 | 6 | 31403294 | intron variant | C/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.882 | 0.080 | 20 | 3430406 | intergenic variant | G/A | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.080 | 11 | 33436311 | intron variant | A/G | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.080 | 13 | 24740488 | upstream gene variant | G/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.925 | 11 | 17094129 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.882 | 0.080 | 17 | 73383923 | missense variant | G/A | snv | 5.3E-02 | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 |