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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 16 | 53771295 | intron variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53781249 | intron variant | T/A;G | snv | 0.59 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 16 | 53785965 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1 | 96427444 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
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 | |||||||
|
3 | 0.925 | 0.120 | 16 | 53811575 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
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 | ||||||
|
8 | 0.851 | 0.120 | 16 | 53808996 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 13 | 53528071 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.080 | 16 | 53766475 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 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 | ||||||
|
2 | 1.000 | 0.080 | 18 | 60196859 | non coding transcript exon variant | C/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.080 | 18 | 60192330 | upstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2009 | 2009 |