PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Central areolar choroidal sclerosis ×
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: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		Eye Diseases 0.030 1.000 3 2002 2018
dbSNP: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		Eye Diseases 0.020 1.000 2 2006 2011
dbSNP: rs61755793
rs61755793 		0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		Eye Diseases 0.010 1.000 1 2009 2009