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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 20645640 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 | 0.800 | 1.000 | 26 | 2004 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 20644526 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 2004 | 2014 | ||||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 20644549 | missense variant | G/A | snv | 4.4E-05 | 7.7E-05 | 0.800 | 1.000 | 21 | 2004 | 2014 | |||
|
3 | 0.882 | 0.040 | 1 | 20644651 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 21 | 2004 | 2014 | |||
|
3 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 0.800 | 1.000 | 21 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 20639934 | missense variant | G/A | snv | 4.0E-06 | 0.710 | 0.952 | 21 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 20644515 | missense variant | C/G | snv | 9.5E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 2004 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 20648601 | missense variant | G/A;C;T | snv | 1.0E-04; 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 20 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 20649134 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 2004 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 20637956 | missense variant | G/C | snv | 2.0E-05 | 0.700 | 1.000 | 20 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 20644551 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 | 0.700 | 1.000 | 20 | 2004 | 2014 | |||
|
2 | 1.000 | 0.040 | 1 | 20633925 | missense variant | A/C;G | snv | 5.3E-06; 3.7E-05 | 0.700 | 1.000 | 20 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 20649217 | stop gained | C/T | snv | 8.0E-05 | 4.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 20639990 | stop gained | C/A | snv | 0.700 | 1.000 | 3 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 20638041 | missense variant | C/T | snv | 1.9E-04 | 1.7E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 20639952 | stop gained | C/A;T | snv | 5.2E-05; 2.8E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 1 | 20645706 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 7965348 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 1 | 20637894 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 20638053 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 20650512 | frameshift variant | -/TTAG | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 20650542 | inframe insertion | CAA/-;CAACAA | delins | 4.0E-06 | 0.700 | 0 |