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 | 19 | 52780882 | non coding transcript exon variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 6 | 32168770 | 3 prime UTR variant | T/G | snv | 0.64 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 7345864 | intron variant | T/C | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 10 | 116638460 | synonymous variant | A/G | snv | 0.38 | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 18 | 21681452 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 96464584 | intron variant | A/T | snv | 9.2E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 238186781 | non coding transcript exon variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 162925277 | intergenic variant | C/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 85306432 | intron variant | A/C;G | snv | 7.4E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 74553977 | non coding transcript exon variant | C/T | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 37474336 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 56094615 | downstream gene variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 15046354 | intron variant | C/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 0.925 | 0.120 | 2 | 27617773 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 13 | 60939535 | intron variant | T/C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 5535851 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 95083980 | regulatory region variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 3 | 142930268 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 60280752 | intergenic variant | G/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 11 | 61887833 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 10953011 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 103397233 | downstream gene variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 |