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: rs104893777
rs104893777
1.000 0.080 3 129532289 missense variant A/G snv
CUI: C3151001
Disease: Retinitis Pigmentosa 4
Retinitis Pigmentosa 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 20 1990 2009