PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Macular dystrophy ×
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: rs139185976
rs139185976 		0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 2 1997 2019
dbSNP: rs61755793
rs61755793 		0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61755814
rs61755814 		1.000 0.040 6 42704478 stop gained G/A snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs753657349
rs753657349 		0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 0
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.020 1.000 2 1995 2009