| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 0.800 | 1.000 | 12 | 2006 | 2017 | |||
|
1 | 1.000 | 0.160 | 1 | 45508806 | missense variant | G/A;C | snv | 1.6E-05; 3.3E-04 | 0.800 | 1.000 | 11 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508982 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 11 | 2006 | 2015 | ||||
|
2 | 1.000 | 0.160 | 1 | 45500412 | missense variant | A/G | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508931 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.800 | 1.000 | 10 | 2006 | 2018 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508847 | stop gained | C/A;G;T | snv | 6.4E-05; 2.0E-05 | 0.800 | 1.000 | 9 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508282 | missense variant | T/C | snv | 4.8E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 2006 | 2015 | |||
|
1 | 1.000 | 0.160 | 1 | 45508975 | stop gained | G/A | snv | 4.4E-05 | 2.1E-05 | 0.710 | 1.000 | 9 | 2006 | 2017 | |||
|
1 | 1.000 | 0.160 | 1 | 45507542 | frameshift variant | -/T | delins | 0.700 | 1.000 | 10 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 45508932 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 8 | 2006 | 2017 | ||||
|
2 | 0.925 | 0.160 | 1 | 45507544 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 1.000 | 7 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508266 | stop gained | C/T | snv | 5.2E-05 | 1.0E-04 | 0.700 | 1.000 | 5 | 2006 | 2014 | |||
|
1 | 1.000 | 0.160 | 1 | 45508910 | frameshift variant | GT/- | delins | 4.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508833 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 1 | 45509032 | stop gained | C/A | snv | 2.8E-05 | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508983 | missense variant | G/A;C | snv | 1.7E-04 | 0.700 | 1.000 | 5 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508323 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2015 | |||
|
1 | 1.000 | 0.160 | 1 | 45509022 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 5 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.160 | 1 | 45508823 | stop gained | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 5 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.160 | 1 | 45500333 | start lost | A/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508974 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508981 | stop gained | C/A;G;T | snv | 2.4E-05; 2.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.160 | 1 | 45508837 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.160 | 1 | 45507355 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.160 | 1 | 45507491 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2006 | 2016 |