PRPH2, peripherin 2, 5961
N. diseases: 152; N. variants: 61
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 42704556 | missense variant | A/G | snv | 4.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 4 | 1993 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 42704535 | missense variant | G/A;T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 4 | 1993 | 2016 | |||||||
|
1.000 | 0.040 | 6 | 42704534 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 4 | 1993 | 2016 | ||||||
|
0.827 | 0.120 | 6 | 42721781 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 6 | 42721836 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 42698438 | frameshift variant | CA/- | del |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 6 | 42722199 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 6 | 42722133 | missense variant | C/T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.080 | 6 | 42721913 | missense variant | T/C | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 42721872 | inframe deletion | TTC/- | delins |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 6 | 42721866 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 6 | 42721835 | missense variant | C/T | snv |
|
Eye Diseases | 0.800 | 0 | |||||||||||
|
0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 6 | 42704564 | missense variant | G/A;C | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 42721913 | frameshift variant | -/AGTA | delins |
|
Eye Diseases | 0.700 | 0 |