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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 2 | 218805152 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 3 | 186854563 | synonymous variant | C/T | snv | 6.4E-05 | 2.6E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 3 | 119806650 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
27 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
18 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.882 | 0.160 | 1 | 203122146 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
80 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 |