Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 0.700 | 1.000 | 7 | 2007 | 2014 | ||||
|
14 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173857643 | missense variant | C/G | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 1 | 173838207 | missense variant | G/A;C | snv | 2.8E-05 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 173831593 | missense variant | G/T | snv | 1.1E-04 | 1.0E-04 | 0.800 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 173826692 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 1 | 173833419 | missense variant | G/A | snv | 7.2E-05 | 3.5E-05 | 0.800 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 173857604 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 173857644 | missense variant | T/A | snv | 7.0E-06 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 173833433 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 173857653 | missense variant | A/G | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 1 | 173856670 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 173838206 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173850408 | stop gained | G/A;C;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 173825249 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173828311 | non coding transcript exon variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173857592 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 173830763 | splice donor variant | T/C;G | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 173837018 | missense variant | C/A | snv | 1.2E-05 | 0.700 | 0 |