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: rs121918563
rs121918563 		0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.700 0
dbSNP: rs121918563
rs121918563 		0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs121918563
rs121918563 		0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C2675552
Disease: Retinitis Pigmentosa 7, Digenic
Retinitis Pigmentosa 7, Digenic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918565
rs121918565 		1.000 0.080 6 42722333 start lost A/G snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918566
rs121918566 		1.000 0.080 6 42698389 stop gained C/T snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs1554268546
rs1554268546 		1.000 0.080 6 42698469 frameshift variant CGACGTCT/- del
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554269053
rs1554269053 		1.000 0.080 6 42704529 missense variant A/G snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1554269053
rs1554269053 		1.000 0.080 6 42704529 missense variant A/G snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554269071
rs1554269071 		1.000 0.080 6 42704557 missense variant G/C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1554269081
rs1554269081 		1.000 0.080 6 42704581 stop gained G/C snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1562434117
rs1562434117 		1.000 0.080 6 42722018 frameshift variant CA/- delins
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236097
rs527236097 		1.000 0.080 6 42721925 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236098
rs527236098 		0.925 0.080 6 42721836 missense variant C/T snv
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs527236098
rs527236098 		0.925 0.080 6 42721836 missense variant C/T snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
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: rs61748429
rs61748429 		1.000 0.040 6 42698438 frameshift variant CA/- del
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61754402
rs61754402 		1.000 0.080 6 42722298 missense variant G/A;T snv 4.3E-04
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755769
rs61755769 		1.000 0.080 6 42722222 frameshift variant C/- delins
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755770
rs61755770 		0.925 0.080 6 42722202 missense variant G/A snv 1.1E-03 4.1E-03
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755770
rs61755770 		0.925 0.080 6 42722202 missense variant G/A snv 1.1E-03 4.1E-03
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs61755771
rs61755771 		0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
dbSNP: rs61755771
rs61755771 		0.827 0.160 6 42722199 stop gained G/A snv 1.6E-05 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: 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