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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 7 | 99771177 | intron variant | -/CT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 4 | 40240870 | intron variant | -/T | delins | 7.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.120 | 6 | 31353908 | 3 prime UTR variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.040 | 6 | 32134903 | upstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 6 | 31300555 | intron variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 7 | 20007952 | intron variant | A/C | snv | 6.2E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 6 | 31392478 | downstream gene variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 1.000 | 6 | 31282829 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 18 | 59519354 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 6 | 33957119 | intergenic variant | A/C | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 16 | 35734888 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1.000 | 6 | 31175805 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||||
|
5 | 0.925 | 0.040 | 6 | 31250462 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
4 | 1.000 | 6 | 31277757 | non coding transcript exon variant | A/C;G;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 6 | 31275123 | intron variant | A/C;G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.925 | 0.080 | 6 | 30904426 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 6 | 31125999 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 1.000 | 2 | 194695273 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 6 | 31033366 | intron variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | |||||
|
6 | 0.882 | 0.160 | 6 | 31543147 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
4 | 1.000 | 6 | 31202737 | non coding transcript exon variant | A/G | snv | 0.14 | 0.12 | 0.700 | 1.000 | 2 | 2009 | 2010 |