PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
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: rs1554270834
rs1554270834 		6 42722069 frameshift variant GCTGGGTC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs375090109
rs375090109 		6 42722120 missense variant C/A;G snv 4.0E-06; 2.4E-05
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 1997 1997
dbSNP: rs6931385
rs6931385 		6 42710096 intron variant A/C;T snv 0.55
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs9296398
rs9296398 		6 42705940 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.040 1.000 4 1995 2014
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: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.020 1.000 2 1995 2009
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.020 1.000 2 1998 2014
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
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		Eye Diseases 0.010 1.000 1 1996 1996
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0271092
Disease: Progressive cone dystrophy (without rod involvement)
Progressive cone dystrophy (without rod involvement) 		Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0339513
Disease: Dominant drusen
Dominant drusen 		0.010 1.000 1 2002 2002
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.710 1.000 1 1996 1996
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: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		Eye Diseases 0.700 0
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755783
rs61755783 		0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		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: rs61755792
rs61755792 		0.763 0.160 6 42721821 missense variant G/A;C snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0