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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.860 | 0.900 | 10 | 2008 | 2015 | |||
|
6 | 0.827 | 0.120 | 11 | 64382898 | intergenic variant | T/C | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 12 | 40350592 | intron variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 2 | 2221629 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 3826677 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 18 | 12855647 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 3821924 | intron variant | C/T | snv | 0.75 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 13 | 20188817 | 3 prime UTR variant | A/G | snv | 0.74 | 0.710 | 1.000 | 2 | 2010 | 2012 | ||||
|
5 | 0.827 | 0.120 | 1 | 206788283 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 19 | 10706980 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
14 | 0.724 | 0.240 | 1 | 81771892 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 62610240 | intron variant | C/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 16 | 50660100 | upstream gene variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 | 0.710 | 1.000 | 2 | 2015 | 2017 | |||
|
1 | 1.000 | 0.040 | 13 | 99298006 | intron variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2014 | 2019 | |||
|
1 | 1.000 | 0.040 | 6 | 137874556 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2015 | 2015 |