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 | 0.160 | 7 | 5986899 | missense variant | C/G;T | snv | 1.6E-02 | 0.700 | 1.000 | 10 | 1999 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 5977643 | missense variant | A/C;G | snv | 0.700 | 1.000 | 10 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 5973460 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 5986777 | missense variant | T/G | snv | 0.700 | 1.000 | 10 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 5999269 | missense variant | C/T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 5995591 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5995564 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5977759 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 6003772 | frameshift variant | -/GA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 5999193 | missense variant | C/G;T | snv | 3.7E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 5992044 | missense variant | A/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 7 | 5997342 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||
|
2 | 1.000 | 0.160 | 7 | 5978622 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2013 | ||||
|
2 | 0.925 | 0.200 | 7 | 5987328 | missense variant | G/A;C | snv | 1.6E-05; 4.2E-03 | 0.700 | 1.000 | 10 | 1999 | 2013 | ||||
|
2 | 1.000 | 0.160 | 7 | 6003981 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.160 | 7 | 5997420 | stop gained | G/A | snv | 9.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 7 | 5989798 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 7 | 5987012 | missense variant | G/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.200 | 7 | 5999199 | missense variant | T/G | snv | 8.0E-06 | 0.800 | 1.000 | 13 | 1999 | 2017 | ||||
|
3 | 1.000 | 0.160 | 7 | 5992059 | splice acceptor variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
3 | 0.925 | 0.160 | 7 | 5978625 | frameshift variant | TTCT/- | delins | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 1.000 | 0.160 | 7 | 6004059 | splice acceptor variant | C/G;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.160 | 7 | 5987294 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 7 | 5987526 | frameshift variant | TTT/-;TTTT;TTTTTT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 13 | 48349024 | splice donor variant | G/A;T | snv | 0.700 | 0 |