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 | 0.925 | 0.080 | 2 | 20934123 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1 | 237746239 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 3 | 33012839 | intron variant | T/C | snv | 0.93 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 0.925 | 0.040 | 11 | 116741017 | intergenic variant | C/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 1.000 | 0.040 | 11 | 116776891 | 3 prime UTR variant | C/T | snv | 0.92 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.800 | 1.000 | 8 | 2012 | 2019 | ||||
|
14 | 8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.800 | 1.000 | 9 | 2012 | 2019 | |||
|
5 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 28757771 | downstream gene variant | C/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
6 | 8 | 9323885 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 11 | 64101590 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 117163903 | non coding transcript exon variant | G/A;T | snv | 4.0E-06; 0.81 | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||
|
1 | 11 | 116985926 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 11 | 117072638 | intron variant | A/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 13 | 50647482 | intron variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 116860489 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 72374091 | intron variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 7702675 | intergenic variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 2 | 3587163 | regulatory region variant | T/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 125462163 | upstream gene variant | T/G | snv | 0.84 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 15 | 58442806 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2012 | 2012 |