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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 7 | 2009 | 2018 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 3 | 2008 | 2018 | ||||
|
4 | 19 | 19244291 | intron variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 19 | 19394278 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
11 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.800 | 1.000 | 2 | 2012 | 2018 | |||
|
2 | 3 | 190647811 | intron variant | G/C | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.800 | 1.000 | 6 | 2012 | 2019 | ||||
|
2 | 19 | 44636865 | intron variant | A/G;T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 5 | 75348856 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 75794012 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 131578846 | intron variant | C/T | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 48916690 | intron variant | A/G | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||||
|
2 | 1 | 237648783 | intron variant | T/G | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 19 | 19612406 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 47824663 | intron variant | T/C | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 160368267 | intron variant | G/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 15 | 58507555 | intron variant | A/G | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.800 | 1.000 | 5 | 2013 | 2019 | |||||||
|
2 | 12 | 111658411 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 |