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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.160 | 20 | 36240388 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 16 | 16163158 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
10 | 0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.827 | 0.240 | 22 | 41527949 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.240 | 22 | 41526319 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 7 | 100647014 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 7 | 100646637 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 9 | 85619123 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 9 | 85619213 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.240 | 6 | 135455750 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 3 | 184242930 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 3 | 184245709 | splice region variant | T/C | snv | 0.700 | 0 |