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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.800 | 1.000 | 2 | 2004 | 2007 | ||||
|
3 | 0.925 | 0.160 | 14 | 23429040 | missense variant | G/A | snv | 2.3E-04 | 7.0E-05 | 0.800 | 1.000 | 2 | 2004 | 2007 | |||
|
6 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.120 | 14 | 23417541 | missense variant | C/G | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 23415669 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2014 | |||
|
2 | 0.925 | 0.160 | 14 | 23416105 | inframe deletion | TTC/- | delins | 0.700 | 1.000 | 4 | 2000 | 2014 | |||||
|
2 | 0.925 | 0.160 | 14 | 23416988 | splice acceptor variant | CTC/- | delins | 0.700 | 1.000 | 3 | 2004 | 2011 | |||||
|
10 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 23414104 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23424112 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 14 | 23415476 | inframe deletion | TCT/-;TCTTCT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 23415801 | missense variant | C/A;G;T | snv | 4.0E-06; 6.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 14 | 23413809 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.160 | 14 | 23431602 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 23416890 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 23416162 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 14 | 23416134 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 14 | 23416020 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 14 | 23415174 | inframe deletion | CAG/- | delins | 0.700 | 0 |