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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.807 | 0.200 | 9 | 34743684 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.080 | 6 | 159094277 | non coding transcript exon variant | T/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 6 | 137686393 | intron variant | G/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 6 | 159051263 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 2 | 203937855 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 30222456 | intergenic variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.200 | 2 | 203843923 | intergenic variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 6 | 159068759 | non coding transcript exon variant | G/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.040 | 10 | 122433665 | 3 prime UTR variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 2 | 65368452 | intron variant | G/A;T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 2 | 30225478 | intergenic variant | G/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 1 | 200923009 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 2 | 100190478 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 65379519 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 60943910 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 |