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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 18 | 49643445 | intergenic variant | A/G;T | snv | 0.74 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
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 | ||||
|
2 | 8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
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 | |||||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
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 | ||||||
|
2 | 11 | 46721697 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
5 | 0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
4 | 8 | 19961928 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
19 | 0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 | 0.700 | 1.000 | 2 | 2008 | 2012 | |||
|
3 | 8 | 19965681 | 3 prime UTR variant | T/C | snv | 4.0E-02 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 19 | 54288907 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
3 | 8 | 19967357 | downstream gene variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
6 | 17 | 78407903 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
2 | 17 | 68879153 | non coding transcript exon variant | C/G | snv | 0.40 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2013 |