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 | 11 | 31793719 | frameshift variant | -/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 31790836 | missense variant | A/C | snv | 0.700 | 1.000 | 17 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 63323575 | missense variant | A/C | snv | 7.2E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 11 | 31800837 | missense variant | A/T | snv | 0.700 | 1.000 | 17 | 1993 | 2014 | |||||
|
2 | 0.925 | 0.080 | 11 | 31810826 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 31790710 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 31801704 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 31794072 | missense variant | C/G | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 1993 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 31794689 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 17 | 1993 | 2014 | ||||
|
2 | 0.925 | 0.080 | 1 | 63323105 | missense variant | C/T | snv | 4.5E-04 | 4.4E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 1 | 63323417 | missense variant | C/T | snv | 1.1E-03 | 9.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 31793797 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 31794690 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1993 | 2014 | ||||
|
6 | 0.807 | 0.240 | 11 | 31794079 | stop gained | G/A | snv | 0.720 | 1.000 | 2 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.080 | 11 | 31801653 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 11 | 31801611 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 11 | 31794705 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 31801744 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 31800808 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 31802733 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 11 | 31801561 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 17 | 1993 | 2014 | |||||
|
1 | 1.000 | 0.080 | 4 | 110618292 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 59269327 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.080 | 11 | 31802769 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 31790769 | missense variant | G/C;T | snv | 4.0E-06; 2.6E-04 | 0.700 | 0 |