RHO, rhodopsin, 6010

N. diseases: 178; N. variants: 71
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.
dbSNP: rs104893779
rs104893779
0.851 0.080 3 129532288 missense variant G/A;T snv 4.0E-06
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration
Eye Diseases 0.010 1.000 1 2019 2019