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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 0.850 | 1.000 | 31 | 1990 | 2019 | ||||
|
1 | 1.000 | 0.160 | 2 | 240871391 | missense variant | G/A;C | snv | 3.1E-05 | 0.800 | 1.000 | 25 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869249 | missense variant | G/A | snv | 2.0E-05 | 0.800 | 1.000 | 24 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875126 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 24 | 1991 | 2015 | ||||
|
1 | 1.000 | 0.160 | 2 | 240873987 | missense variant | T/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1991 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869326 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 11 | 1998 | 2014 | ||||
|
2 | 0.925 | 0.160 | 2 | 240868987 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 240871398 | stop gained | C/A;T | snv | 4.4E-06; 4.4E-06 | 0.800 | 1.000 | 9 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.160 | 2 | 240878128 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.800 | 1.000 | 7 | 1998 | 2015 | ||||
|
1 | 1.000 | 0.160 | 2 | 240873022 | missense variant | G/A | snv | 4.4E-05 | 0.800 | 1.000 | 7 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240877534 | splice region variant | C/A;G;T | snv | 4.6E-05; 4.0E-05 | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||
|
3 | 0.882 | 0.160 | 2 | 240878721 | missense variant | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 5 | 2009 | 2017 | ||||
|
2 | 0.925 | 0.160 | 2 | 240868891 | frameshift variant | CC/-;C;CCC | delins | 0.700 | 1.000 | 5 | 1999 | 2007 | |||||
|
3 | 0.882 | 0.160 | 2 | 240871406 | missense variant | G/A;C;T | snv | 1.8E-05; 1.3E-05 | 0.800 | 1.000 | 5 | 2006 | 2013 | ||||
|
1 | 1.000 | 0.160 | 2 | 240868897 | missense variant | C/A;G;T | snv | 3.8E-04; 1.6E-04; 0.15 | 0.740 | 1.000 | 5 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.160 | 2 | 240878055 | frameshift variant | G/- | del | 8.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875165 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 240875185 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 3 | 2005 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 240870688 | frameshift variant | -/CTGCA | delins | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 240878086 | missense variant | T/A | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2004 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 240868980 | frameshift variant | -/CA | delins | 0.700 | 1.000 | 2 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.160 | 2 | 240868986 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2007 | 2015 | |||||
|
1 | 1.000 | 0.160 | 2 | 240868995 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2001 | |||||
|
1 | 1.000 | 0.160 | 2 | 240869004 | missense variant | G/A;C | snv | 2.5E-05; 4.1E-06 | 0.800 | 1.000 | 2 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869246 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2009 | 2014 |