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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 32128430 | missense variant | C/G;T | snv | 0.800 | 1.000 | 26 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 32136933 | missense variant | C/A;T | snv | 0.800 | 1.000 | 26 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32145004 | stop gained | C/G;T | snv | 0.800 | 1.000 | 25 | 1999 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 32141917 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 24 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 32144996 | missense variant | G/A | snv | 0.800 | 1.000 | 24 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32116199 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32136877 | missense variant | A/G;T | snv | 0.800 | 1.000 | 20 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32136964 | missense variant | A/C;T | snv | 0.800 | 1.000 | 20 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32154380 | missense variant | A/C | snv | 3.8E-04 | 3.1E-04 | 0.700 | 1.000 | 20 | 1999 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 32136930 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1999 | 2014 | |||||
|
1 | 1.000 | 0.080 | 2 | 32064120 | missense variant | C/A;T | snv | 5.9E-04; 5.0E-06 | 0.700 | 1.000 | 20 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 32115709 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 1999 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 32145005 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 32144995 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1999 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 32141941 | splice donor variant | AGG/- | delins | 0.700 | 1.000 | 5 | 1991 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 32137187 | splice donor variant | TAGG/- | delins | 0.700 | 1.000 | 4 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 32144957 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 32154373 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.080 | 2 | 32141902 | splice acceptor variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2001 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32126952 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 32144936 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2002 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 32127013 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 32141904 | missense variant | G/C | snv | 0.700 | 1.000 | 2 | 2006 | 2010 | |||||
|
1 | 1.000 | 0.080 | 2 | 32087520 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 32144986 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2000 | 2009 |