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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 17 | 66322239 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 18 | 44859921 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 38678444 | intergenic variant | C/T | snv | 0.73 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
12 | 0.776 | 0.080 | 6 | 36655602 | regulatory region variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1 | 61408005 | intron variant | T/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.080 | 12 | 114355435 | 3 prime UTR variant | C/G;T | snv | 1.8E-05; 0.61 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 7 | 46580547 | intergenic variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 36446412 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 10 | 112719503 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
7 | 1.000 | 0.080 | 3 | 38725824 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.080 | 3 | 38733341 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 3 | 53248287 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 115768346 | missense variant | T/C | snv | 0.33 | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 3 | 66381178 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 10 | 89067022 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 13 | 73946049 | intron variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 1.000 | 0.040 | 17 | 46935905 | 3 prime UTR variant | T/C | snv | 9.2E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1 | 51080468 | intergenic variant | T/G | snv | 3.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 10 | 52464217 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 37020872 | intron variant | T/C | snv | 0.24 | 0.18 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 7 | 35265695 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 5 | 154489480 | upstream gene variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 14 | 71590638 | intron variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 3 | 38616408 | intron variant | A/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 0.925 | 0.120 | 3 | 38592432 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 |