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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 1 | 74527379 | intron variant | C/T | snv | 0.44 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 74525718 | intron variant | C/G | snv | 0.49 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 23569282 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 9 | 36969208 | intron variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 109604699 | intron variant | C/T | snv | 4.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 40351419 | intron variant | G/A | snv | 1.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 213737151 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 13 | 66393490 | intron variant | A/G | snv | 2.7E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 18120141 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 8 | 9888288 | intergenic variant | G/A | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.080 | 1 | 77582646 | intron variant | T/C | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 41185695 | intergenic variant | C/T | snv | 9.3E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 1.000 | 0.080 | 18 | 60144750 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 14 | 61441393 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.080 | 1 | 72372846 | intron variant | A/G | snv | 0.85 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.925 | 0.120 | 5 | 75719417 | upstream gene variant | T/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 76886778 | 3 prime UTR variant | G/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 6 | 50830813 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.080 | 6 | 50877777 | intergenic variant | A/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 9 | 93125038 | missense variant | G/T | snv | 0.81 | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.925 | 0.120 | 5 | 75707853 | missense variant | T/A;C | snv | 4.5E-06; 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 79437033 | intron variant | G/A | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 1.000 | 0.080 | 16 | 3963466 | 3 prime UTR variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 79803175 | intron variant | C/T | snv | 0.22 | 0.800 | 1.000 | 1 | 2013 | 2013 |