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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 18 | 60181790 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
1 | 5 | 123396542 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 79473182 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 14 | 79470621 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 6 | 32180254 | synonymous variant | A/G | snv | 0.13 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 11 | 27618676 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 27650705 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 11 | 8647890 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1 | 96427444 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 45752271 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 56564125 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 14 | 30045906 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 13 | 53528071 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 4 | 45179317 | intergenic variant | A/C;T | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 130764699 | intergenic variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 20 | 58589799 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 14 | 29267632 | non coding transcript exon variant | C/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 26581807 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 2560680 | upstream gene variant | A/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 223072020 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 2 | 96882719 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |