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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.120 | X | 8945785 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 0.700 | 0 | |||||||
|
5 | 1.000 | 0.040 | 17 | 7631360 | missense variant | C/A;T | snv | 5.6E-05; 4.5E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 17 | 7630488 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.280 | 17 | 7630105 | 5 prime UTR variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 0.040 | 17 | 7618597 | intron variant | G/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 71772800 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.925 | 0.120 | 16 | 682232 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 16 | 681186 | missense variant | A/G | snv | 4.8E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 18 | 60371808 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 20 | 5314219 | missense variant | C/T | snv | 4.5E-03 | 3.0E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.160 | 20 | 5314116 | missense variant | C/A;T | snv | 3.3E-04; 7.1E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 20 | 5302677 | missense variant | A/C | snv | 2.3E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.160 | 20 | 5302374 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 180266394 | missense variant | G/A | snv | 4.8E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.320 | 2 | 171443559 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 4 | 103656258 | stop gained | C/T | snv | 3.1E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 |