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 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 23429031 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 14 | 23424068 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 23431425 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
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 | 23424843 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 14 | 23427672 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23431447 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23425294 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23429004 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2011 | |||||
|
2 | 0.925 | 0.160 | 14 | 23416988 | splice acceptor variant | CTC/- | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.080 | 14 | 23428642 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
2 | 0.925 | 0.080 | 14 | 23431804 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23419949 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 23426809 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23431641 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2016 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23427855 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425991 | missense variant | C/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2017 |