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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 11 | 68403545 | synonymous variant | T/C | snv | 0.91 | 0.83 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 11 | 68396046 | intron variant | C/T | snv | 0.74 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 7 | 96508362 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
12 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 68418032 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 18 | 24358694 | intron variant | T/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 87852697 | regulatory region variant | T/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 64267309 | intron variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 43768035 | 3 prime UTR variant | C/T | snv | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
3 | 1.000 | 0.080 | 11 | 45882062 | 3 prime UTR variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 8 | 118965553 | intergenic variant | G/C | snv | 0.65 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 199812203 | intron variant | A/C | snv | 0.64 | 0.830 | 1.000 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 23874958 | synonymous variant | C/T | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23875153 | synonymous variant | G/A | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23875429 | synonymous variant | T/C | snv | 4.0E-06; 0.62 | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 8 | 119039999 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.030 | 0.667 | 3 | 2014 | 2018 | |||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 0.020 | 1.000 | 2 | 2015 | 2016 |