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 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 18 | 49632720 | intergenic variant | A/G | snv | 0.86 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1 | 230169242 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 20 | 58589799 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 1.000 | 0.040 | 6 | 34585020 | downstream gene variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 21 | 43359800 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | X | 29622701 | intron variant | A/G | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 15 | 58396988 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 15 | 58406811 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
4 | 0.925 | 0.080 | 11 | 116810292 | downstream gene variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 8 | 19992246 | intergenic variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 16 | 56984190 | downstream gene variant | G/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 8 | 125472284 | intron variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 16 | 67191598 | upstream gene variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 15 | 58398555 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 |