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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 170366925 | intron variant | T/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 218394547 | non coding transcript exon variant | G/A | snv | 0.51 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 32627446 | upstream gene variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 134887180 | missense variant | C/T | snv | 0.26 | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 2 | 218384290 | missense variant | C/T | snv | 0.23 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.790 | 0.360 | 1 | 206768184 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 218387907 | synonymous variant | C/T | snv | 7.0E-02 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.807 | 0.240 | 2 | 218164385 | missense variant | C/G | snv | 9.1E-02 | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 218166777 | intron variant | G/C | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 218126282 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 22 | 37135413 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.827 | 0.240 | 5 | 132680652 | intron variant | ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 170306872 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |