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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 10 | 52464217 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 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 | 12 | 114943935 | intergenic variant | G/A | snv | 0.27 | 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 | 3 | 38535871 | intron variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 17 | 55296189 | intron variant | A/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 6 | 118346359 | intergenic variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 21 | 28781917 | regulatory region variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 3 | 38616408 | intron variant | A/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 71590638 | intron variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 162045950 | intergenic variant | A/G | snv | 0.24 | 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 | 10 | 76131488 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 71417850 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 5 | 154489480 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 154492610 | upstream gene variant | G/A | snv | 0.41 | 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 | 4 | 20182314 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 7 | 35265695 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 13 | 46641083 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 |