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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 6 | 24528049 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.800 | 1.000 | 5 | 2001 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 24495274 | missense variant | G/A;T | snv | 3.9E-05 | 0.800 | 1.000 | 4 | 2001 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 24515243 | missense variant | G/A | snv | 8.7E-05 | 8.4E-05 | 0.800 | 1.000 | 3 | 2001 | 2013 | |||
|
1 | 1.000 | 0.120 | 6 | 24504871 | stop gained | G/A | snv | 4.8E-05 | 7.0E-05 | 0.700 | 1.000 | 3 | 2001 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 24515204 | missense variant | A/G | snv | 2.8E-05 | 6.4E-05 | 0.700 | 1.000 | 3 | 2001 | 2003 | |||
|
1 | 1.000 | 0.120 | 6 | 24503350 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 3 | 2001 | 2003 | ||||
|
1 | 1.000 | 0.120 | 6 | 24504927 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2001 | 2003 | |||||
|
1 | 1.000 | 0.120 | 6 | 24520535 | missense variant | C/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2003 | ||||
|
1 | 1.000 | 0.120 | 6 | 24533701 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 2001 | 2003 | ||||
|
1 | 1.000 | 0.120 | 6 | 24528057 | stop gained | C/T | snv | 3.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 24504867 | splice acceptor variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 24504957 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 24495100 | stop gained | CCGGGCCTGCGCCCGGCCCGGCCC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 24511869 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 24528167 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 6 | 24515259 | frameshift variant | T/- | del | 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 24528167 | splice donor variant | GTA/TT | delins | 0.700 | 0 |