| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 148748354 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||||
|
15 | 49454167 | intron variant | T/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 19514680 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 22083484 | intron variant | C/A | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
14 | 93129246 | regulatory region variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 43937043 | regulatory region variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 107814198 | intron variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 216760800 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 14 | 36104812 | intron variant | C/T | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
9 | 4267209 | intron variant | A/G | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 45206016 | intron variant | C/T | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 88575873 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.925 | 0.080 | 8 | 55445714 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1 | 61154824 | intron variant | A/G | snv | 0.92 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 79715456 | non coding transcript exon variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
19 | 7223837 | intron variant | T/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1 | 19501286 | intron variant | G/A | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.040 | 5 | 77234524 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 165632995 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
8 | 32558756 | intron variant | G/A | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.080 | 9 | 97784318 | intron variant | C/T | snv | 0.71 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 6 | 43844025 | downstream gene variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 6 | 148200156 | regulatory region variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
17 | 72131395 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 |