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: rs61755806
rs61755806 		0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 11 1991 2016
dbSNP: rs61755816
rs61755816 		0.925 0.080 6 42704461 missense variant G/C;T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 11 1991 2016
dbSNP: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		Eye Diseases 0.800 1.000 4 2006 2016
dbSNP: rs61755802
rs61755802 		1.000 0.040 6 42704556 missense variant A/G snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.800 1.000 4 1993 2016
dbSNP: rs61755781
rs61755781 		0.851 0.080 6 42721913 missense variant T/C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2012 2012
dbSNP: rs61755789
rs61755789 		0.925 0.080 6 42721835 missense variant C/T snv
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.800 0
dbSNP: rs61755794
rs61755794 		1.000 0.080 6 42721817 missense variant T/A snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs61755800
rs61755800 		0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 2 1993 2008
dbSNP: rs121918564
rs121918564 		1.000 0.080 6 42704419 stop gained G/T snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 1997 1997
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: rs61755798
rs61755798 		0.827 0.080 6 42704564 missense variant G/A;C snv
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 1 2006 2006
dbSNP: rs121918563
rs121918563 		0.827 0.120 6 42721781 missense variant A/G snv 8.0E-06 1.4E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 11 1991 2016
dbSNP: rs139185976
rs139185976 		0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 11 1991 2016
dbSNP: rs61755800
rs61755800 		0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 11 1991 2016
dbSNP: rs61755804
rs61755804 		0.925 0.080 6 42704552 missense variant C/G;T snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 11 1991 2016
dbSNP: rs61755805
rs61755805 		0.882 0.080 6 42704547 missense variant G/A snv
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 11 1991 2016
dbSNP: rs61748432
rs61748432 		1.000 0.080 6 42698422 missense variant 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 1.000 5 1997 2016
dbSNP: rs61755801
rs61755801 		1.000 0.080 6 42704558 missense variant C/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 1.000 5 1997 2016
dbSNP: rs61755809
rs61755809 		0.925 0.080 6 42704535 missense variant G/A;T snv 4.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 1.000 4 1993 2016
dbSNP: rs61755810
rs61755810 		1.000 0.040 6 42704534 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 1.000 4 1993 2016
dbSNP: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2003 2012
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: 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: 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