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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 6 | 31916180 | intron variant | A/G | snv | 0.72 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 7 | 25862019 | intergenic variant | G/A | snv | 0.63 |
|
0.820 | 1.000 | 4 | 2011 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 58158505 | intron variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 17 | 48184809 | missense variant | C/T | snv | 4.0E-06; 0.63 | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 3 | 24922859 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 6 | 152232879 | intron variant | C/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 22169701 | regulatory region variant | T/C | snv | 0.44 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
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 | 1 | 22164231 | intergenic variant | C/A | snv | 0.22 |
|
0.850 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 63133372 | intron variant | T/A;C | snv |
|
0.710 | < 0.001 | 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 | ||||||||
|
1.000 | 0.040 | 10 | 44046117 | regulatory region variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 95181055 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 95237500 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 |
|
0.850 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 9 | 22115106 | intron variant | C/A | snv | 0.15 |
|
0.820 | 1.000 | 1 | 2010 | 2014 | ||||||||
|
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 | 19 | 13221196 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |