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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.850 | 20 | 2003 | 2018 | ||||
|
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 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.800 | 0.846 | 13 | 2002 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.800 | 0.923 | 13 | 2004 | 2017 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.100 | 0.833 | 12 | 2007 | 2019 | |||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.100 | 0.900 | 10 | 2002 | 2015 | |||
|
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 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.840 | 0.889 | 9 | 2008 | 2017 | ||||
|
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 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
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 | |||||
|
6 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 0.060 | 0.833 | 6 | 2009 | 2016 | ||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.060 | 1.000 | 6 | 2012 | 2016 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.050 | 0.800 | 5 | 2007 | 2017 | ||||
|
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 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.050 | 0.600 | 5 | 2009 | 2017 | |||
|
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 |