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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 15 | 2007 | 2020 | |||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.850 | 1.000 | 9 | 2009 | 2018 | ||||
|
6 | 0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 | 0.810 | 1.000 | 9 | 2009 | 2017 | ||||
|
7 | 0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 | 0.820 | 1.000 | 8 | 2009 | 2017 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.080 | 1.000 | 8 | 2005 | 2017 | |||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.820 | 1.000 | 7 | 2008 | 2017 | |||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.820 | 1.000 | 7 | 2011 | 2017 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.830 | 1.000 | 6 | 2010 | 2016 | |||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.060 | 1.000 | 6 | 2012 | 2016 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.050 | 1.000 | 5 | 2009 | 2018 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.050 | 1.000 | 5 | 2011 | 2018 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 1.000 | 5 | 2008 | 2014 | ||||
|
3 | 0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 | 0.810 | 1.000 | 5 | 2009 | 2017 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.050 | 1.000 | 5 | 2014 | 2018 | ||||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.050 | 1.000 | 5 | 2004 | 2017 | |||
|
2 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 0.810 | 1.000 | 4 | 2009 | 2017 | ||||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.810 | 1.000 | 4 | 2009 | 2012 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.730 | 1.000 | 4 | 2011 | 2016 | |||
|
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 | ||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 4 | 2010 | 2017 | ||||
|
9 | 0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 | 0.710 | 1.000 | 4 | 2015 | 2019 | |||
|
5 | 0.827 | 0.120 | 1 | 19816373 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2016 | ||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.040 | 1.000 | 4 | 2014 | 2018 |