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: rs61755774
rs61755774 		1.000 0.040 6 42722133 missense variant C/T snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755777
rs61755777 		1.000 0.080 6 42721977 inframe deletion CAG/- delins
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755781
rs61755781 		0.851 0.080 6 42721913 missense variant T/C snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755781
rs61755781 		0.851 0.080 6 42721913 missense variant T/C snv
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: 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: rs61755785
rs61755785 		1.000 0.080 6 42721877 missense variant T/C snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755786
rs61755786 		0.925 0.080 6 42721872 inframe deletion TTC/- delins
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755786
rs61755786 		0.925 0.080 6 42721872 inframe deletion TTC/- delins
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755787
rs61755787 		0.882 0.120 6 42721866 missense variant C/T snv
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.700 0
dbSNP: rs61755787
rs61755787 		0.882 0.120 6 42721866 missense variant C/T snv
CUI: C4072867
Disease: obsolete Peripheral retinopathy
obsolete Peripheral retinopathy 		0.700 0
dbSNP: rs61755787
rs61755787 		0.882 0.120 6 42721866 missense variant C/T snv
CUI: C0344232
Disease: Blurred vision
Blurred vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61755787
rs61755787 		0.882 0.120 6 42721866 missense variant C/T snv
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61755787
rs61755787 		0.882 0.120 6 42721866 missense variant C/T snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755788
rs61755788 		1.000 0.080 6 42721841 missense variant C/T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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
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
dbSNP: rs61755797
rs61755797 		0.882 0.080 6 42704565 missense variant G/A;C snv 4.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755798
rs61755798 		0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755798
rs61755798 		0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755799
rs61755799 		0.882 0.160 6 42704560 missense variant G/T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755802
rs61755802 		1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.700 0
dbSNP: rs61755806
rs61755806 		0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0