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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 2 | 81524000 | intergenic variant | C/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 2 | 81441684 | intergenic variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 12 | 29960950 | regulatory region variant | C/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 11 | 91151171 | intergenic variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 12 | 119551841 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 55303513 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 106855364 | intergenic variant | T/C | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 79730966 | downstream gene variant | G/A | snv | 0.78 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 79582820 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
6 | 0.925 | 0.080 | 6 | 104959787 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 11 | 133697090 | intergenic variant | C/T | snv | 0.87 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 16 | 87957445 | intron variant | A/C | snv | 0.83 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.120 | 6 | 31870936 | stop gained | G/A;T | snv | 0.44; 4.1E-06 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 3 | 170776620 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 37829231 | intron variant | A/G | snv | 0.81 | 0.84 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 13 | 111568950 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 9 | 106174393 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 10897255 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 2 | 171134461 | intron variant | C/T | snv | 0.41 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 15 | 41359371 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 11 | 30361352 | intergenic variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 241877473 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.120 | 2 | 27492549 | intron variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 15 | 89320697 | intron variant | T/G | snv | 0.47 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 49732085 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 |