| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 6 | 51542050 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 16 | 8803074 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 5 | 14837223 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 6 | 1548134 | intergenic variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 25532695 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 11637825 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 8 | 104945792 | intron variant | A/G | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 170132792 | upstream gene variant | A/G | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 81219506 | intergenic variant | A/G | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 5475252 | intron variant | A/G | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 20 | 6492476 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 4 | 7914813 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 11 | 120336696 | 5 prime UTR variant | A/G | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 93203634 | downstream gene variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 22056360 | non coding transcript exon variant | A/G | snv | 0.71 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 22050899 | intron variant | A/G | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
0.925 | 0.040 | 17 | 10127866 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 126620281 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 1532881 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 7 | 117992921 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 6 | 36625210 | upstream gene variant | AC/- | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 10 | 58615138 | intron variant | C/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 158555245 | intron variant | C/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 165749742 | intron variant | C/A | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 83644699 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |