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 | 23424817 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23416211 | inframe deletion | CTC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 23429044 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 14 | 23424085 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 23417597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23427846 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23424044 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 14 | 23424843 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.080 | 14 | 23431425 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.807 | 0.080 | 14 | 23431589 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2011 | ||||
|
3 | 0.882 | 0.080 | 14 | 23429004 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.080 | 14 | 23429031 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425371 | missense variant | G/A;C;T | snv | 2.9E-04 | 0.700 | 1.000 | 3 | 2003 | 2012 | ||||
|
3 | 0.882 | 0.080 | 14 | 23425970 | missense variant | C/G;T | snv | 0.700 | 1.000 | 13 | 1994 | 2013 | |||||
|
9 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1990 | 2013 | |||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2013 | |||||
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 2004 | 2013 | ||||
|
4 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2013 | ||||
|
3 | 0.882 | 0.080 | 14 | 23418244 | missense variant | C/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 23429308 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 14 | 23429005 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 19 | 1992 | 2014 | |||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1992 | 2014 | ||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 10 | 1999 | 2014 | ||||
|
9 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2014 |