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 | 16 | 15037797 | 3 prime UTR variant | -/A;AA;AAA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 621603 | intergenic variant | -/T | ins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 653245 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 40782400 | intron variant | A/C | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 85770262 | intron variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 6 | 127134676 | intron variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1 | 201815159 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 16 | 53773852 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 6 | 40380914 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 1.000 | 0.080 | 18 | 60185715 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2019 | |||||
|
2 | 4 | 45179317 | intergenic variant | A/C;T | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 150469527 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 0.800 | 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 | 8647890 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
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 | ||||
|
6 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 5 | 56564125 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 2 | 226228086 | intergenic variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 16 | 3971733 | intron variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 96520975 | intron variant | A/G | snv | 0.29 | 0.800 | 1.000 | 1 | 2013 | 2013 |