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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.320 | 12 | 49185140 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 12 | 49186657 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2001 | 2016 | ||||
|
3 | 0.925 | 0.240 | 12 | 49185714 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |