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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 13 | 113102226 | upstream gene variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 13 | 113098517 | 3 prime UTR variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 13 | 113098850 | 3 prime UTR variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 12 | 6044348 | synonymous variant | A/G | snv | 0.31 | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1 | 197101646 | synonymous variant | C/T | snv | 0.26 | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 13 | 43196338 | regulatory region variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 6337273 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 6331703 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 6341054 | intergenic variant | A/C;G | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 184796825 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 9 | 114325784 | intron variant | T/A | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 197004053 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
11 | 0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1 | 94586920 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 6317893 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 13 | 113139535 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 5 | 112357674 | intron variant | T/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 1.000 | 0.040 | 1 | 196917640 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 13 | 113118393 | intron variant | G/A | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 2 | 30303914 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1 | 197185891 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 |