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 | 2 | 643303 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 652247 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
8 | 1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 16 | 28894763 | intron variant | G/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 1.000 | 0.040 | 10 | 4613373 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 11 | 62492533 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 30716909 | 5 prime UTR variant | C/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 6 | 129540247 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 16 | 3988386 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 5 | 63522073 | intergenic variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 8 | 75661476 | intergenic variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 4 | 170869381 | intergenic variant | G/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 17 | 48046570 | non coding transcript exon variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 1070426 | downstream gene variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 18 | 32836937 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 15 | 54711241 | intergenic variant | A/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 21731847 | intron variant | G/A | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 9 | 126703046 | non coding transcript exon variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1 | 63015059 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 3 | 12075120 | intron variant | G/A | snv | 0.82 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 5 | 96510626 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 96519387 | intron variant | G/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 5 | 96522554 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 |