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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.040 | 1 | 198696788 | synonymous variant | C/G;T | snv | 8.8E-03; 8.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 9 | 94926763 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 16 | 10987392 | intron variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 0.925 | 0.040 | 7 | 44376473 | downstream gene variant | G/C;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 7 | 70555174 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
7 | 0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.200 | 4 | 122194347 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 18 | 12747013 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1 | 2593476 | intron variant | G/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 203764087 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 11114248 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 |