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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.800 | 1.000 | 8 | 2007 | 2019 | |||||
|
1 | 1 | 159226975 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159308461 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159436169 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
3 | 6 | 88403098 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 5 | 125907327 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 4 | 140466284 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 9 | 82800066 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 10 | 128135192 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 5 | 125907327 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 30608983 | intron variant | A/G | snv | 0.46 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1 | 83788868 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
7 | 0.925 | 0.160 | 12 | 120987058 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 6 | 2008 | 2019 | |||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 5 | 2008 | 2019 | |||
|
3 | 12 | 121001630 | 3 prime UTR variant | G/A | snv | 0.31 | 0.800 | 1.000 | 4 | 2008 | 2019 | ||||||
|
17 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 4 | 2008 | 2018 | |||||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 3 | 2008 | 2019 | ||||
|
11 | 0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 | 0.800 | 1.000 | 2 | 2008 | 2019 | ||||
|
1 | 12 | 103101373 | intron variant | T/C | snv | 0.57 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 0.800 | 1.000 | 8 | 2009 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 7 | 2009 | 2019 |