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 | 0.882 | 0.160 | 9 | 6589230 | missense variant | C/G;T | snv | 8.7E-05; 2.3E-02 | 0.800 | 1.000 | 13 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6553457 | missense variant | G/A;C | snv | 8.0E-06 | 0.810 | 1.000 | 8 | 1991 | 2019 | ||||
|
1 | 1.000 | 0.120 | 9 | 6587249 | missense variant | G/C | snv | 1.6E-05 | 0.810 | 1.000 | 7 | 1991 | 2019 | ||||
|
2 | 0.925 | 0.160 | 9 | 6595109 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6602147 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.800 | 1.000 | 6 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6605193 | missense variant | G/C | snv | 0.700 | 1.000 | 6 | 1991 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6592871 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6602138 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6604637 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6553510 | splice acceptor variant | C/T | snv | 3.2E-05 | 0.700 | 1.000 | 4 | 2006 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6589193 | splice donor variant | A/C | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6587205 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2006 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 6604735 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6553502 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6588641 | missense variant | G/C | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6554783 | splice acceptor variant | T/C | snv | 4.1E-06 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.120 | 9 | 6554703 | missense variant | C/G;T | snv | 1.7E-04 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.200 | 9 | 6610222 | missense variant | G/A | snv | 0.720 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.120 | 9 | 6540132 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6556267 | frameshift variant | ATGATAGC/- | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 6595081 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 6550916 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 9 | 6534738 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6536062 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 9 | 6550845 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |