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 | 12 | 67453680 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 82625296 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 13 | 22735243 | intergenic variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.851 | 0.280 | 6 | 32445540 | downstream gene variant | G/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 32634705 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 14 | 87737048 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32444762 | 3 prime UTR variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | 6 | 32460012 | non coding transcript exon variant | T/C | snv | 0.61 | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 32452402 | regulatory region variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 32470765 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 32470871 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 6 | 32621223 | regulatory region variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 |