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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 16 | 31137821 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.080 | 1.000 | 8 | 2010 | 2018 | ||||
|
4 | 1.000 | 0.080 | 3 | 150379848 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 122434362 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 15 | 101262752 | intergenic variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.200 | 6 | 35428018 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 14 | 92932724 | missense variant | C/T | snv | 3.9E-04 | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 12 | 109968581 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 31671676 | intergenic variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 13 | 112981842 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 13 | 21740007 | regulatory region variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 230701298 | upstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 10 | 95494548 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
7 | 0.827 | 0.120 | 6 | 16145094 | missense variant | A/G | snv | 0.60 | 0.63 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
8 | 1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.020 | 0.500 | 2 | 2010 | 2015 | ||||
|
2 | 4 | 137518476 | downstream gene variant | T/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 6 | 135126635 | intergenic variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 22596235 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 68747416 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 15019561 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 |