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 | 17 | 43125988 | intron variant | -/GTT | delins | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 20470092 | intron variant | A/C | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
1 | 12 | 121753584 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 111276855 | 3 prime UTR variant | A/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 11 | 91151171 | intergenic variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 0.925 | 0.120 | 17 | 64483156 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 38123069 | intron variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 87957445 | intron variant | A/C | snv | 0.83 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 22 | 38505089 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 19 | 3933316 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 32354931 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 0.925 | 0.080 | 6 | 104959787 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 12 | 10723329 | upstream gene variant | A/C;T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 43021209 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.925 | 0.120 | 19 | 55322296 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 19 | 55319820 | non coding transcript exon variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||
|
2 | 4 | 83452469 | intron variant | A/G | snv | 0.60 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||||
|
1 | 12 | 66310445 | missense variant | A/G | snv | 3.1E-02 | 2.5E-02 | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||
|
1 | 19 | 55322386 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||
|
1 | 9 | 32975212 | non coding transcript exon variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 123228637 | intergenic variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 5 | 172507488 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 100093652 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 130319789 | intergenic variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 62917850 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 |