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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 0.810 | 1.000 | 1 | 1999 | 2014 | ||||
|
3 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 0.810 | 1.000 | 1 | 1999 | 2012 | |||||
|
3 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 1 | 1999 | 2017 | |||||
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.720 | 1.000 | 2 | 1999 | 2012 | |||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.720 | 1.000 | 2 | 1999 | 2019 | |||||
|
5 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 0.944 | 1 | 1999 | 2012 | ||||
|
4 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2007 | 2016 | |||||
|
4 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
3 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2017 | |||||
|
3 | 0.925 | 0.040 | 15 | 63043751 | missense variant | G/A | snv | 6.8E-06 | 0.040 | 1.000 | 4 | 2005 | 2017 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044029 | frameshift variant | G/- | delins | 0.040 | 1.000 | 4 | 2005 | 2013 | |||||
|
3 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
10 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 0.030 | 1.000 | 3 | 2008 | 2017 | |||
|
8 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2020 | ||||
|
2 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 0.500 | 2 | 1997 | 2007 | ||||
|
17 | 0.724 | 0.320 | 10 | 114044277 | missense variant | A/G | snv | 0.15 | 0.17 | 0.020 | 1.000 | 2 | 2012 | 2012 | |||
|
29 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.020 | 1.000 | 2 | 2002 | 2012 | |||
|
6 | 0.851 | 0.040 | 15 | 63042874 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 201365254 | missense variant | G/A;C | snv | 0.72 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
9 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2003 | 2003 | |||||
|
131 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 0.500 | 2 | 1997 | 2007 | |||
|
2 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.020 | 1.000 | 2 | 2003 | 2016 |