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 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 6 | 1998 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 2778009 | missense variant | G/A | snv | 4.8E-05 | 5.6E-05 | 0.800 | 1.000 | 6 | 1998 | 2015 | |||
|
4 | 0.882 | 0.120 | 11 | 2572057 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 2572848 | missense variant | G/C | snv | 0.700 | 1.000 | 6 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 2583445 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1998 | 2015 | ||||
|
4 | 0.851 | 0.120 | 11 | 2583478 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 2572072 | missense variant | GG/TC | mnv | 0.700 | 1.000 | 6 | 1998 | 2015 | |||||
|
4 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 11 | 2445213 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
20 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 2572061 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2661991 | frameshift variant | ATGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2777035 | splice region variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.120 | 11 | 2777990 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 2847863 | frameshift variant | CCAGAGAGGGCGGGGCCCAC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2527992 | frameshift variant | CT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 2570712 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 2775999 | frameshift variant | CAGTAC/GTTGAGA | delins | 0.700 | 0 |