PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 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: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.800 1.000 4 2006 2016
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.710 1.000 1 2005 2005
dbSNP: rs563581127
rs563581127 		1.000 0.040 6 42721968 missense variant G/A snv 1.8E-04 1.8E-04
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.700 0
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.700 0
dbSNP: rs61755793
rs61755793 		0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.700 0