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: rs104893782
rs104893782
0.882 0.080 3 129532340 missense variant T/G snv
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010