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 | 2 | 238975165 | regulatory region variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
18 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 158000430 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 147539622 | intron variant | T/C | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19943601 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 4 | 87128698 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.800 | 1.000 | 9 | 2010 | 2019 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 19 | 19394278 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 19609015 | intron variant | C/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 6836678 | intron variant | C/T | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.800 | 1.000 | 6 | 2010 | 2019 | |||
|
2 | 8 | 11919395 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 43724219 | downstream gene variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 14 | 64245143 | intron variant | A/G | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 116739533 | regulatory region variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
12 | 0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||
|
2 | 16 | 67888439 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 75321018 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 173227744 | upstream gene variant | T/C | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 20973240 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 0.925 | 0.120 | 2 | 27328100 | synonymous variant | A/G | snv | 0.42 | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 |