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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 6 | 41957552 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 17 | 39954436 | intron variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 22 | 37071352 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 22 | 32471541 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 12 | 68567804 | intergenic variant | C/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 1.000 | 6 | 31117993 | non coding transcript exon variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1 | 161841765 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
3 | 8 | 129601368 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 9 | 98623959 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 158342195 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 124696819 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 157580276 | intron variant | T/C;G | snv | 0.43; 8.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 158758599 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 159367158 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 159020457 | synonymous variant | A/G | snv | 0.22 | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 158354635 | missense variant | A/G | snv | 0.45 | 0.52 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 160542826 | 3 prime UTR variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 159892363 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 1 | 159905665 | downstream gene variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 156586529 | synonymous variant | G/A | snv | 0.92 | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 |