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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 0.667 | 3 | 2008 | 2018 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.925 | 0.040 | 17 | 45793781 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 7 | 114656047 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 21 | 45225800 | 3 prime UTR variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
4 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2017 | 2017 |