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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 15 | 97975562 | downstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 19 | 54028370 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 14 | 49421667 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 87178264 | intergenic variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 7 | 77671409 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 34855901 | 3 prime UTR variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 3094983 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.060 | 0.667 | 6 | 2005 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.060 | 0.667 | 6 | 2005 | 2016 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 3 | 8733391 | intron variant | G/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 15805410 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 15784379 | intron variant | C/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.160 | 15 | 78602417 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 78597979 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 15 | 78578946 | intron variant | T/C | snv | 0.60 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 78586900 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 15 | 78577237 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 15 | 32147097 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 15 | 32151995 | intron variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 15 | 32033473 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 4 | 55432027 | 3 prime UTR variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 |