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 | 6 | 32436600 | upstream gene variant | A/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.160 | 3 | 169772158 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 15 | 40421575 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1062990 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 40416223 | intron variant | A/G | snv | 0.68 | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 15 | 40433064 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1262997 | downstream gene variant | A/G | snv | 0.55 | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.160 | 3 | 169762416 | downstream gene variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 13 | 112882313 | 3 prime UTR variant | A/G | snv | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 40421679 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.882 | 0.200 | 3 | 169779797 | non coding transcript exon variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 15 | 40437201 | upstream gene variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.160 | 17 | 46712837 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 15 | 85559945 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.040 | 17 | 45913906 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 10 | 103894406 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 11 | 1237573 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 7 | 99977135 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 10 | 66465128 | intron variant | A/G | snv | 0.21 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.925 | 0.120 | 17 | 46169798 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 11 | 1275007 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 1085368 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.851 | 0.240 | 17 | 46003698 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 |