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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 2 | 164684290 | 3 prime UTR variant | T/C | snv | 0.13 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
6 | 1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
8 | 19 | 44917997 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
8 | 18 | 60181790 | intergenic variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
2 | 1 | 182199750 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 16 | 67894139 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
9 | 0.851 | 0.240 | 16 | 56961915 | upstream gene variant | G/A | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
17 | 0.807 | 0.200 | 11 | 61802358 | 3 prime UTR variant | C/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
8 | 1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
3 | 22 | 21577779 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
3 | 18 | 49643445 | intergenic variant | A/G;T | snv | 0.74 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
6 | 0.925 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
2 | 16 | 68082115 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
7 | 0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 2 | 2008 | 2012 | ||||
|
3 | 1.000 | 0.040 | 16 | 67868167 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 12 | 109457363 | non coding transcript exon variant | C/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||
|
6 | 0.882 | 0.080 | 8 | 19955669 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
2 | 15 | 63104668 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
2 | 11 | 10367235 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
9 | 0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
6 | 8 | 125468730 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 2 | 2012 | 2012 |