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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 13 | 68665820 | intergenic variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 13 | 68701828 | intergenic variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 14 | 23755826 | downstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 36956045 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 31252224 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 18 | 31252875 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
5 | 1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 8 | 125492484 | intron variant | T/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 8 | 115636338 | intron variant | A/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 2 | 20703255 | intron variant | T/C | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 55955288 | 3 prime UTR variant | T/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 20 | 19809906 | intron variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 1 | 216379025 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 3 | 157236602 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 8118541 | intergenic variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 31395996 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 8 | 97963444 | intron variant | A/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 55901572 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
12 | 0.851 | 0.160 | 16 | 56971567 | intron variant | C/A | snv | 0.34 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
6 | 1.000 | 0.080 | 19 | 44885917 | intron variant | T/A | snv | 0.11 | 0.16 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 11 | 116851325 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 9 | 104888562 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 2 | 21021128 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 |