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 | 7 | 131768766 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
4 | 11 | 8462542 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 1.000 | 0.080 | 11 | 47641497 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 33831232 | intergenic variant | A/C;G;T | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.925 | 0.160 | 16 | 53735765 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.925 | 0.200 | 1 | 72346757 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 0.040 | 10 | 4613373 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 0.080 | 16 | 19922278 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.120 | 3 | 85835000 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1 | 96479241 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 6 | 129540247 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 16 | 3988386 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 5 | 63522073 | intergenic variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 8 | 75661476 | intergenic variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 17 | 48046570 | non coding transcript exon variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 1070426 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 0.080 | 13 | 27446043 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.925 | 0.160 | 5 | 124996410 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 0.080 | 11 | 8583046 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 1.000 | 0.040 | 16 | 28874338 | upstream gene variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 9 | 126703046 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 63015059 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 7 | 50683393 | intron variant | T/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2012 | 2012 |