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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.160 | 2 | 240875159 | missense variant | T/C | snv | 4.4E-05 | 5.6E-05 | 0.860 | 1.000 | 29 | 1991 | 2015 | |||
|
8 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
4 | 0.851 | 0.160 | 2 | 240871433 | missense variant | G/A;C | snv | 5.6E-04 | 0.850 | 1.000 | 31 | 1990 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 240868986 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.800 | 1.000 | 20 | 1991 | 2014 | |||
|
3 | 0.882 | 0.160 | 2 | 240878721 | missense variant | G/A;C | snv | 5.9E-06 | 0.700 | 1.000 | 5 | 2009 | 2017 | ||||
|
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 | ||||
|
3 | 0.882 | 0.240 | 7 | 143263541 | frameshift variant | TCTTCTATGACGTGCTGTC/- | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.160 | 2 | 240871379 | missense variant | T/A | snv | 9.0E-05 | 1.5E-04 | 0.820 | 1.000 | 25 | 1991 | 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 | ||||
|
2 | 0.925 | 0.160 | 2 | 240868891 | frameshift variant | CC/-;C;CCC | delins | 0.700 | 1.000 | 5 | 1999 | 2007 | |||||
|
2 | 0.925 | 0.160 | 2 | 240875974 | frameshift variant | AG/-;AGAG | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
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 | 240875125 | missense variant | C/T | snv | 5.6E-05 | 4.9E-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 | 240873995 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.800 | 1.000 | 21 | 1991 | 2014 | |||
|
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 | ||||
|
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 | 240873014 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 9 | 1992 | 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 | 240874035 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 7 | 2003 | 2012 | |||
|
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 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869350 | missense variant | G/A | snv | 4.3E-06 | 2.1E-05 | 0.800 | 1.000 | 6 | 1999 | 2014 |