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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 19 | 33408159 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 3 | 2013 | 2018 | ||||||
|
1 | 16 | 67777687 | intron variant | C/A | snv | 0.14 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
3 | 1.000 | 0.080 | 19 | 54304302 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||
|
4 | 17 | 43763481 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2018 | |||||||
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.700 | 1.000 | 3 | 2014 | 2018 | ||||||
|
4 | 16 | 56959974 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
3 | 1.000 | 0.040 | 8 | 20070649 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 18 | 49631816 | intergenic variant | T/C | snv | 0.75 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 8 | 70348225 | intron variant | G/A | snv | 9.9E-02 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
3 | 4 | 26048829 | intergenic variant | C/- | del | 0.18 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 12 | 109527707 | intron variant | C/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||
|
6 | 1.000 | 0.080 | 12 | 26310149 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
4 | 16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
5 | 10 | 112150963 | 3 prime UTR variant | A/G | snv | 0.71 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 16 | 56967026 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
8 | 19 | 44917997 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 1 | 178560763 | upstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
3 | 17 | 78386710 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 18 | 49580782 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
1 | 14 | 73783423 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
5 | 0.851 | 0.080 | 11 | 116830638 | splice donor variant | G/A | snv | 1.4E-03 | 1.5E-03 | 0.700 | 1.000 | 2 | 2017 | 2018 |