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 | 0.925 | 0.080 | 2 | 21007749 | frameshift variant | AAAGA/- | delins | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 21012365 | stop gained | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 2 | 1993 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 21004676 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 2 | 21010325 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 2 | 21006393 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.080 | 2 | 21006682 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21009263 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21001940 | inframe deletion | CTG/- | delins | 2.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 21006681 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 21038086 | stop gained | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 0.710 | 1.000 | 15 | 1989 | 2017 | |||
|
10 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
4 | 0.851 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1989 | 1989 | |||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.900 | 1.000 | 26 | 1989 | 2018 |