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 | 15 | 54711241 | intergenic variant | A/G | snv | 0.92 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 18 | 32836937 | intron variant | A/G | snv | 0.88 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 1.000 | 0.080 | 2 | 622531 | intergenic variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.882 | 0.200 | 2 | 634905 | TF binding site variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 2 | 624678 | intergenic variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.925 | 0.120 | 2 | 622827 | intergenic variant | T/A;C | snv | 0.85 | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
16 | 0.752 | 0.400 | 11 | 27704439 | intron variant | T/A | snv | 0.83 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
5 | 1.000 | 0.080 | 3 | 186116710 | intron variant | A/T | snv | 0.82 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
3 | 3 | 12075120 | intron variant | G/A | snv | 0.82 | 0.800 | 1.000 | 2 | 2012 | 2012 | ||||||
|
6 | 1.000 | 0.080 | 2 | 638144 | regulatory region variant | G/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 2 | 646767 | intergenic variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
7 | 0.925 | 0.120 | 2 | 644953 | intergenic variant | A/G | snv | 0.81 | 0.700 | 1.000 | 2 | 2009 | 2009 | ||||
|
3 | 8 | 69581739 | intron variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 7 | 25910925 | intergenic variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 8 | 75661476 | intergenic variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 9 | 84671077 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 2 | 647760 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 647861 | intergenic variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 647580 | intergenic variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 2 | 648198 | intergenic variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 5 | 63522073 | intergenic variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 1.000 | 0.040 | 16 | 28933075 | missense variant | C/G | snv | 0.72 | 0.76 | 0.700 | 1.000 | 1 | 2013 | 2013 |