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 | 15 | 68766745 | intergenic variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 3 | 123012063 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 4 | 99307309 | 3 prime UTR variant | T/C | snv | 0.24 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 1.000 | 0.080 | 10 | 94285156 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.020 | 1.000 | 2 | 2007 | 2012 | |||
|
5 | 0.851 | 0.120 | 10 | 94310618 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||
|
2 | 1.000 | 0.080 | 4 | 99135847 | intron variant | A/G | snv | 1.1E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
4 | 0.882 | 0.120 | 22 | 28734024 | intron variant | T/C | snv | 0.67 | 0.810 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 9 | 72790943 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 201335852 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 106809420 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 201340018 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 201338068 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 28102469 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 2 | 201347651 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 18 | 55138645 | regulatory region variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 12 | 30980130 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.080 | 10 | 94292754 | intron variant | C/T | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 10 | 17006709 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 94163787 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 13 | 113589954 | intron variant | A/G | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 201334965 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 85966605 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 |