Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 3 | 16583541 | downstream gene variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 156199819 | non coding transcript exon variant | A/G | snv | 0.34 | 0.43 |
|
0.800 | 1.000 | 3 | 2013 | 2017 | |||||||
|
1.000 | 0.120 | 19 | 23966743 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
1.000 | 0.120 | 4 | 103133529 | intron variant | A/G | snv | 0.35 |
|
0.800 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 165904155 | non coding transcript exon variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 11826180 | intron variant | A/G;T | snv |
|
0.710 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
1.000 | 0.120 | 16 | 88482856 | intron variant | C/G | snv | 0.47 |
|
0.710 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 142100008 | intron variant | C/T | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
1.000 | 0.120 | 7 | 1929317 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.120 | 3 | 156582935 | regulatory region variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 4 | 94303661 | intron variant | T/G | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.851 | 0.240 | 6 | 33574761 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.882 | 0.200 | 12 | 14500933 | 3 prime UTR variant | C/A;G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.882 | 0.120 | 12 | 88559784 | intron variant | C/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 5 | 142302223 | regulatory region variant | G/A | snv | 0.55 |
|
0.810 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.120 | 16 | 74636560 | synonymous variant | C/T | snv | 0.54 | 0.59 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1.000 | 0.120 | 8 | 70064270 | intron variant | C/T | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 845516 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 16 | 50109033 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 58555182 | intron variant | G/T | snv | 0.77 |
|
0.810 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
1.000 | 0.120 | 14 | 55413329 | upstream gene variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 15 | 66528912 | missense variant | A/G | snv | 0.23 | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 6 | 149650996 | upstream gene variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |