Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2008 | 2013 | |||||
|
8 | 1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2008 | 2013 | ||||
|
2 | 4 | 59883111 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 7 | 113271355 | intergenic variant | A/C;G | snv | 0.25 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 10 | 37219522 | synonymous variant | A/C | snv | 0.50 | 0.44 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 3 | 137389640 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 6 | 150330764 | upstream gene variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 13 | 92670893 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 12 | 115064913 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 2 | 71731350 | intergenic variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 3 | 192376186 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 3 | 10494087 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 15 | 91174122 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 2 | 68343640 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
2 | 6 | 65855460 | intergenic variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 6 | 161580404 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 16 | 7454852 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 5 | 2010 | 2018 | |||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 2 | 210195326 | missense variant | T/G | snv | 0.30 | 0.27 | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||
|
3 | 1 | 75640990 | downstream gene variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 4 | 158709665 | 3 prime UTR variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 19 | 49496752 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 |