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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 | 0.810 | 1.000 | 8 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 | 0.820 | 1.000 | 6 | 2009 | 2017 | ||||
|
11 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.820 | 1.000 | 6 | 2011 | 2017 | ||||
|
5 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.840 | 0.889 | 5 | 2008 | 2017 | ||||
|
7 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.820 | 1.000 | 5 | 2008 | 2017 | |||
|
7 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.850 | 1.000 | 4 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.040 | 5 | 135107916 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 1 | 200132792 | intron variant | A/G | snv | 0.84 | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||
|
5 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 4 | 2011 | 2017 | ||||
|
6 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.830 | 1.000 | 3 | 2010 | 2016 | |||||
|
3 | 0.925 | 0.040 | 9 | 136371953 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 1.000 | 0.040 | 16 | 30471173 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
8 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
5 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 3 | 2007 | 2020 | |||
|
6 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 16 | 85980635 | intron variant | T/C | snv | 0.15 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
1 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 3 | 2009 | 2017 | ||||
|
8 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
6 | 0.827 | 0.120 | 17 | 72646784 | 3 prime UTR variant | A/C | snv | 0.18 | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||
|
4 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.810 | 1.000 | 3 | 2009 | 2012 |