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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 1 | 65652146 | intergenic variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 4 | 154571072 | 3 prime UTR variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 22 | 50663510 | intergenic variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||
|
4 | 1 | 154434943 | intron variant | A/C;T | snv | 0.39; 4.2E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 2 | 102110201 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.040 | 4 | 154589162 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 5 | 132648366 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 5 | 132313493 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.925 | 0.160 | 5 | 132653444 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 5 | 132443024 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 12 | 50740958 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 5 | 132420366 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 2 | 241357034 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 5 | 132532143 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 3 | 136232079 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
3 | 4 | 154572267 | downstream gene variant | A/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 4 | 154379907 | intron variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 8 | 143946999 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |