| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 46291277 | intergenic variant | -/T | delins | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
18 | 50057046 | intron variant | A/C | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46293245 | upstream gene variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 85306432 | intron variant | A/C;G | snv | 7.4E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 116638460 | synonymous variant | A/G | snv | 0.38 | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 46294033 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46294038 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50446052 | intergenic variant | A/G | snv | 5.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 37474336 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 50009408 | intron variant | A/G | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46282441 | regulatory region variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 5535851 | intron variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 192376186 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
4 | 59883111 | intergenic variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
12 | 96464584 | intron variant | A/T | snv | 9.2E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
18 | 50159516 | intron variant | A/T | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46291852 | intergenic variant | C/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 142930268 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 46291989 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 46288677 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
19 | 52780882 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
18 | 21681452 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |