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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 10 | 102244438 | upstream gene variant | G/A | snv | 0.14 | 0.100 | 0.818 | 11 | 2009 | 2014 | ||||
|
3 | 1.000 | 0.040 | 4 | 858525 | intron variant | C/T | snv | 8.1E-02 | 0.870 | 0.889 | 9 | 2009 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.850 | 0.857 | 7 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 4 | 15735725 | intron variant | G/A;T | snv | 0.850 | 1.000 | 7 | 2011 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 205795512 | non coding transcript exon variant | G/A | snv | 0.77 | 0.70 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
1 | 1.000 | 0.040 | 14 | 54882151 | intron variant | C/A;G;T | snv | 0.730 | 1.000 | 6 | 2014 | 2018 | |||||
|
3 | 0.925 | 0.040 | 8 | 16992890 | 3 prime UTR variant | G/A | snv | 5.5E-02 | 0.060 | 0.333 | 6 | 2009 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 0.060 | 0.833 | 6 | 2006 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 205744250 | intron variant | G/A | snv | 0.88 | 0.850 | 1.000 | 6 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 0.840 | 1.000 | 6 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 232528865 | intron variant | C/T | snv | 0.12 | 0.730 | 1.000 | 5 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 205838885 | intron variant | C/A;T | snv | 0.730 | 1.000 | 5 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.040 | 1 | 16991749 | missense variant | C/T | snv | 1.8E-04 | 7.7E-05 | 0.050 | 0.400 | 5 | 2010 | 2016 | |||
|
2 | 0.925 | 0.040 | 8 | 16992989 | 3 prime UTR variant | C/G;T | snv | 0.050 | 0.800 | 5 | 2004 | 2018 | |||||
|
2 | 0.925 | 0.040 | 12 | 40308618 | missense variant | A/G | snv | 8.6E-04 | 5.8E-04 | 0.050 | 1.000 | 5 | 2007 | 2019 | |||
|
1 | 1.000 | 0.040 | 2 | 168260515 | intergenic variant | G/T | snv | 0.15 | 0.820 | 1.000 | 5 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 89743643 | intron variant | C/T | snv | 0.24 | 0.730 | 1.000 | 5 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.040 | 17 | 45651010 | non coding transcript exon variant | G/A | snv | 0.65 | 0.700 | 1.000 | 5 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 16839582 | intron variant | G/A;C | snv | 0.730 | 1.000 | 5 | 2014 | 2018 | |||||
|
2 | 1.000 | 0.040 | 17 | 45436075 | 3 prime UTR variant | C/T | snv | 0.13 | 0.13 | 0.800 | 1.000 | 4 | 2009 | 2012 | |||
|
1 | 1.000 | 0.040 | 3 | 183103487 | intron variant | G/A | snv | 0.12 | 0.810 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 15724143 | intron variant | T/C | snv | 0.13 | 0.730 | 0.500 | 4 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 31110472 | synonymous variant | G/A | snv | 0.39 | 0.31 | 0.720 | 1.000 | 4 | 2014 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 | 0.800 | 1.000 | 4 | 2011 | 2014 |