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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
3 | 0.925 | 0.200 | 17 | 63498888 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32702531 | downstream gene variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32251066 | upstream gene variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | X | 37777261 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.200 | 6 | 32692101 | TF binding site variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 32702799 | downstream gene variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.827 | 0.280 | 6 | 32713854 | upstream gene variant | C/T | snv | 0.66 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 21 | 31646056 | intergenic variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.040 | 1.000 | 4 | 2013 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.080 | 1.000 | 8 | 1999 | 2014 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 63478305 | non coding transcript exon variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.120 | 17 | 63482562 | synonymous variant | C/T | snv | 0.46 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 17 | 63498748 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 15 | 1996 | 2014 | |||
|
2 | 1.000 | 0.080 | 1 | 230710933 | intron variant | T/C | snv | 8.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 230709809 | intron variant | G/A | snv | 3.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 1 | 230704350 | intron variant | T/A;C;G | snv | 1.2E-05; 0.11; 2.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |