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 | 15 | 58450532 | intron variant | T/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
4 | 1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 16 | 56970977 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 18 | 49632720 | intergenic variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
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 | ||||
|
5 | 1.000 | 0.040 | 18 | 49640844 | TF binding site variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2009 | 2009 | |||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 16 | 67979568 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.925 | 0.040 | 19 | 8404854 | downstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 9 | 104894789 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1 | 230169242 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 15 | 58434545 | intron variant | G/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 6 | 34585020 | downstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 8 | 19961817 | intron variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 9 | 15296036 | intron variant | C/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
11 | 0.882 | 0.080 | 16 | 56954132 | intergenic variant | C/T | snv | 0.33 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
4 | 1.000 | 0.040 | 11 | 116746524 | downstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 |