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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 100941963 | non coding transcript exon variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 85449500 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 92543756 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 116545157 | intron variant | C/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 100865980 | intergenic variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 85281310 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 201015352 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 192572342 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 116560027 | non coding transcript exon variant | C/T | snv | 0.15 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 198703360 | missense variant | A/C;G | snv | 5.3E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 1 | 235781046 | missense variant | A/G | snv | 6.8E-05 | 1.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.400 | 1 | 9264154 | missense variant | C/A;T | snv | 0.12 | 8.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.080 | 1 | 92362948 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 25908492 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | 1 | 157800451 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.160 | 1 | 209942767 | intron variant | G/A | snv | 0.92 | 0.710 | 1.000 | 1 | 2018 | 2018 |