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 | 0.080 | 7 | 101130457 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 11 | 126293169 | 3 prime UTR variant | A/G | snv | 0.12 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.889 | 9 | 2002 | 2016 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.160 | 1 | 247415139 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
18 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 17 | 59841670 | 3 prime UTR variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.200 | 5 | 140631730 | 3 prime UTR variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 36509094 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.120 | 11 | 117989554 | missense variant | C/A;T | snv | 2.0E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.240 | 8 | 73989727 | upstream gene variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 6 | 31729610 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 |