| 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 | 0.040 | 1 | 22164231 | intergenic variant | C/A | snv | 0.22 |
|
0.850 | 1.000 | 7 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 |
|
0.850 | 1.000 | 5 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 11587381 | splice acceptor variant | G/A | snv | 0.53 | 0.61 |
|
0.840 | 1.000 | 4 | 2012 | 2015 | |||||||
|
0.925 | 0.080 | 7 | 25862019 | intergenic variant | G/A | snv | 0.63 |
|
0.820 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 22123994 | intron variant | C/T | snv | 0.13 |
|
0.820 | 1.000 | 3 | 2013 | 2020 | ||||||||
|
1.000 | 0.040 | 2 | 67637543 | intron variant | C/T | snv | 0.71 |
|
0.820 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
1.000 | 0.040 | 9 | 22115106 | intron variant | C/A | snv | 0.15 |
|
0.820 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 22169701 | regulatory region variant | T/C | snv | 0.44 |
|
0.810 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 19785357 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
1.000 | 0.040 | 6 | 19803537 | non coding transcript exon variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 44046117 | regulatory region variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 9 | 6253571 | synonymous variant | C/T | snv | 0.38 | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 17 | 3126260 | downstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 7 | 31864413 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 8 | 6971563 | upstream gene variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 2 | 150779318 | regulatory region variant | C/T | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 22159378 | downstream gene variant | T/G | snv | 0.32 |
|
0.750 | 1.000 | 6 | 2010 | 2020 | ||||||||
|
1.000 | 0.040 | 2 | 11581409 | intron variant | T/A;G | snv |
|
0.710 | 0.500 | 2 | 2017 | 2019 | |||||||||
|
1.000 | 0.040 | 14 | 63133372 | intron variant | T/A;C | snv |
|
0.710 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.240 | 6 | 31916180 | intron variant | A/G | snv | 0.72 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 28212010 | intergenic variant | C/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 112805784 | TF binding site variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 25833490 | upstream gene variant | G/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 19 | 48427965 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |