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 | 0.925 | 0.160 | 11 | 6393981 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 11 | 6392056 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 11 | 6391481 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 11 | 6391657 | missense variant | G/C | snv | 4.9E-06 | 0.700 | 0 | |||||||
|
1 | 11 | 6393332 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
2 | 1.000 | 0.160 | 11 | 6390694 | stop gained | G/A | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
1 | 11 | 6391939 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2003 | 2006 | |||||||
|
5 | 0.882 | 0.160 | 11 | 6394204 | missense variant | G/A;C;T | snv | 1.2E-05; 4.0E-06; 1.4E-04 | 0.720 | 1.000 | 2 | 1992 | 2008 | ||||
|
3 | 0.925 | 0.160 | 11 | 6394537 | inframe deletion | GCC/- | delins | 0.700 | 1.000 | 2 | 2003 | 2004 | |||||
|
4 | 0.882 | 0.160 | 11 | 6391976 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.720 | 1.000 | 2 | 1992 | 2017 | |||
|
3 | 0.925 | 0.160 | 11 | 6392141 | missense variant | C/A | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
1 | 11 | 6390705 | missense variant | T/C | snv | 5.9E-03; 0.55; 7.2E-03; 1.1E-02; 0.26 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.160 | 11 | 6391853 | stop gained | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
3 | 0.925 | 0.160 | 11 | 6393276 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
3 | 0.925 | 0.160 | 11 | 6393620 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.160 | 11 | 6393949 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 1.000 | 0.160 | 11 | 6393667 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.160 | 11 | 6394516 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.925 | 0.160 | 11 | 6394335 | stop gained | C/T | snv | 6.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.160 | 11 | 6394445 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.925 | 0.160 | 11 | 6391813 | missense variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.160 | 11 | 6393985 | missense variant | C/A;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 |