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 | 0.080 | 3 | 38551304 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 38630327 | stop gained | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38603948 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 38613752 | missense variant | C/T | snv | 1.1E-04 | 4.0E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 3 | 38613787 | missense variant | G/A | snv | 6.6E-04 | 6.6E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 3 | 38554272 | coding sequence variant | -/CCAC | delins | 0.700 | 1.000 | 2 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609824 | missense variant | G/A;C | snv | 0.800 | 1.000 | 26 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 38550602 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 | 0.800 | 1.000 | 25 | 1998 | 2016 | |||
|
3 | 0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.800 | 1.000 | 25 | 1998 | 2017 | ||||
|
4 | 0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609788 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 3.5E-05 | 0.700 | 1.000 | 25 | 1998 | 2017 | |||
|
2 | 1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 38550569 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 1.000 | 25 | 1998 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 38606709 | missense variant | C/A;T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
5 | 0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.800 | 1.000 | 24 | 1998 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 38609823 | missense variant | C/T | snv | 1.6E-05 | 0.800 | 1.000 | 24 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 38585801 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 24 | 1998 | 2017 | |||
|
3 | 0.882 | 0.120 | 3 | 38566555 | missense variant | G/A | snv | 0.700 | 1.000 | 24 | 1998 | 2017 | |||||
|
3 | 0.882 | 0.120 | 3 | 38606743 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 24 | 1998 | 2017 | |||
|
6 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 0.700 | 1.000 | 21 | 1998 | 2016 | |||||
|
3 | 0.882 | 0.120 | 3 | 38581170 | missense variant | C/A;T | snv | 7.9E-05 | 0.700 | 1.000 | 21 | 1998 | 2016 | ||||
|
4 | 0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 38566465 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 | |||
|
3 | 0.882 | 0.120 | 3 | 38581002 | stop gained | C/A;T | snv | 1.1E-04 | 1.5E-04 | 0.800 | 1.000 | 21 | 1998 | 2016 | |||
|
15 | 0.742 | 0.120 | 3 | 38566426 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 21 | 1998 | 2016 |