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 | 211744902 | 3 prime UTR variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 7053052 | intron variant | G/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 60739797 | intron variant | T/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 95020269 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 181293302 | intergenic variant | T/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 95231973 | intron variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 95050081 | intron variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1 | 94921652 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 95083980 | regulatory region variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
30 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 2 | 238186781 | non coding transcript exon variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 2 | 162925277 | intergenic variant | C/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 135787729 | downstream gene variant | A/G | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 170462384 | intron variant | A/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 0.925 | 0.120 | 2 | 27527679 | downstream gene variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.120 | 2 | 27617773 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 2 | 133771520 | intergenic variant | G/A | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 3 | 37474336 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.080 | 3 | 3088537 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 3 | 192376186 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1 | 3 | 142930268 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 4 | 59883111 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2008 | 2008 |