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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3 | 38535871 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 10321164 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 38518258 | intron variant | A/C;G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 66381178 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 10 | 52464217 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||||
|
13 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
1 | 11 | 30480628 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 162045950 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 6 | 27446145 | downstream gene variant | A/G | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 3 | 69745901 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 35267372 | intergenic variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 53248287 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 3342619 | intron variant | A/G | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 11827246 | intron variant | A/G | snv | 0.15 | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 7 | 46580547 | intergenic variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 30158744 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 17 | 55296189 | intron variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 3 | 38616408 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
15 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
13 | 1.000 | 0.080 | 11 | 61837342 | intron variant | C/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 5 | 173888863 | 5 prime UTR variant | C/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 12 | 114355435 | 3 prime UTR variant | C/G;T | snv | 1.8E-05; 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 18 | 44856687 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 115790490 | regulatory region variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 36965723 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 |