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 | 1.000 | 0.080 | 4 | 152599127 | intergenic variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 34193882 | intron variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 113591989 | splice region variant | C/A | snv | 0.15 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 31006206 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 65049318 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 10775649 | intron variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 94156900 | non coding transcript exon variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 23499566 | intron variant | A/G | snv | 4.2E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 111177400 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 3948365 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 143138931 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 646674 | intergenic variant | T/C | snv | 0.82 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.810 | 1.000 | 2 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 43462891 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 160287544 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 7 | 15024301 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 127606849 | downstream gene variant | G/A | snv | 0.23 | 0.820 | 1.000 | 1 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 7 | 15020804 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 15024591 | intergenic variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 7 | 127518569 | intergenic variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 7 | 130746210 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 |