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 | 14 | 23418348 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23425790 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 14 | 23426022 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 14 | 23430601 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 5 | 2011 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23426046 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2011 | 2017 | |||
|
1 | 1.000 | 0.080 | 14 | 23426039 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23431844 | missense variant | C/G | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425756 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23430583 | missense variant | C/G;T | snv | 8.8E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
4 | 0.882 | 0.080 | 14 | 23429038 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2014 | |||
|
3 | 0.882 | 0.080 | 14 | 23427746 | missense variant | T/C | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 12 | 2005 | 2017 | |||
|
4 | 0.882 | 0.080 | 14 | 23424876 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 17 | 2004 | 2017 | ||||
|
4 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 9 | 2004 | 2013 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424907 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425774 | missense variant | A/G;T | snv | 0.800 | 1.000 | 19 | 2003 | 2017 | |||||
|
4 | 0.851 | 0.080 | 14 | 23425403 | missense variant | C/G;T | snv | 0.800 | 1.000 | 14 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23432714 | missense variant | G/A;C;T | snv | 2.8E-05 | 0.800 | 1.000 | 11 | 2003 | 2015 | ||||
|
1 | 1.000 | 0.080 | 14 | 23433618 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23413763 | missense variant | G/A | snv | 2.4E-05 | 9.8E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
3 | 0.882 | 0.080 | 14 | 23427242 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2017 | |||
|
3 | 0.882 | 0.080 | 14 | 23424909 | missense variant | T/C | snv | 0.700 | 1.000 | 9 | 2000 | 2015 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425971 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 50 | 1992 | 2017 | ||||
|
5 | 0.851 | 0.080 | 14 | 23424839 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 39 | 1992 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.800 | 1.000 | 39 | 1992 | 2017 |