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 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 0.750 | 4 | 2006 | 2012 | |||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 92936280 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
23 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1 | 156139089 | missense variant | A/G | snv | 1.2E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.040 | 11 | 17138601 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.040 | 7 | 103489956 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |