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 | 1.000 | 0.040 | 20 | 33315727 | upstream gene variant | A/G | snv | 0.96 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 20 | 34989186 | intron variant | C/G | snv | 0.96 | 0.800 | 1.000 | 2 | 2008 | 2017 | ||||
|
10 | 0.790 | 0.080 | 20 | 34077942 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 20 | 35872557 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 20 | 34767243 | intron variant | G/A | snv | 0.93 | 0.720 | 1.000 | 3 | 2008 | 2014 | ||||
|
2 | 1.000 | 0.040 | 20 | 33363039 | intron variant | G/A | snv | 0.92 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 10 | 103909085 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 238185147 | intron variant | T/C;G | snv | 0.86 | 0.85 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 20 | 34745404 | intron variant | C/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 33955221 | intron variant | C/A | snv | 0.81 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 16 | 90013126 | intron variant | A/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 3 | 53188745 | synonymous variant | C/T | snv | 0.75 | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.120 | 20 | 34141638 | regulatory region variant | T/G | snv | 0.73 | 0.710 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.120 | 4 | 71769258 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 2 | 201288502 | 3 prime UTR variant | C/A | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 2 | 201279205 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 0.667 | 3 | 2006 | 2016 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 20 | 34150529 | intergenic variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.080 | 11 | 69552350 | intergenic variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 9 | 21804618 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 21695894 | non coding transcript exon variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 |