PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Cone-Rod Dystrophy 2 ×
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: rs61755815
rs61755815 		0.851 0.080 6 42704463 missense variant T/G snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1996 1996
dbSNP: rs62645926
rs62645926 		0.851 0.080 6 42721784 missense variant T/G snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1996 1996
dbSNP: rs62645932
rs62645932 		0.882 0.080 6 42704594 missense variant A/T snv
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1996 1996