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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 9 | 99637981 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 99575049 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 16 | 9821855 | intron variant | C/A | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 976936 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 97064451 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.724 | 0.240 | 5 | 96888176 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 960459 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 8 | 9538022 | intergenic variant | G/A | snv | 0.56 | 0.800 | 1.000 | 2 | 2008 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.040 | 0.750 | 4 | 2014 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.020 | 0.500 | 2 | 2017 | 2019 | |||
|
2 | 0.925 | 0.080 | 7 | 93135669 | synonymous variant | C/T | snv | 0.22 | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 92653853 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.200 | 1 | 92469854 | downstream gene variant | T/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 92200342 | upstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 6 | 90292775 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 13 | 90141725 | intergenic variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 89842195 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.160 | 8 | 89790767 | 3 prime UTR variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 89790263 | synonymous variant | A/G | snv | 2.1E-02 | 6.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 15 | 88913313 | missense variant | G/T | snv | 0.38 | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 |