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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 6 | 42967450 | missense variant | C/T | snv | 2.7E-03 | 2.9E-03 | 0.800 | 1.000 | 5 | 2009 | 2016 | |||
|
2 | 1.000 | 6 | 42967537 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2002 | 2016 | ||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.800 | 1.000 | 3 | 2009 | 2016 | |||
|
1 | 1.000 | 6 | 42966813 | missense variant | G/A | snv | 4.8E-05 | 7.0E-06 | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||
|
1 | 1.000 | 6 | 42978497 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2009 | 2016 | |||||
|
1 | 1.000 | 6 | 42978876 | missense variant | A/C | snv | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||||
|
1 | 1.000 | 6 | 42978855 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||||
|
1 | 1.000 | 6 | 42964882 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||||
|
4 | 0.882 | 0.080 | 6 | 42969714 | frameshift variant | CCAGGCCT/- | delins | 8.0E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2009 | 2016 | |||
|
3 | 0.925 | 6 | 42978765 | missense variant | T/A | snv | 0.700 | 0 | |||||||||
|
4 | 0.882 | 0.080 | 6 | 42965712 | stop gained | G/A | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 6 | 42967411 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 |