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: 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: 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: 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: 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: 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: 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: rs61755800
rs61755800 		0.882 0.080 6 42704559 missense variant T/C;G snv 8.0E-06
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs62645936
rs62645936 		1.000 0.080 6 42704391 missense variant C/A;G;T snv 8.3E-06; 1.7E-05
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: rs753657349
rs753657349 		0.925 0.080 6 42704568 missense variant C/A;T snv 2.0E-05 2.1E-05
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: 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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755793
rs61755793 		0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs61755805
rs61755805 		0.882 0.080 6 42704547 missense variant G/A snv
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 1994 1995
dbSNP: rs121918567
rs121918567 		0.807 0.080 6 42704609 missense variant C/A;T snv 4.0E-06
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 2015 2015
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: rs61755799
rs61755799 		0.882 0.160 6 42704560 missense variant G/T 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: rs61755804
rs61755804 		0.925 0.080 6 42704552 missense variant C/G;T 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 1993 1993
dbSNP: rs61755806
rs61755806 		0.882 0.080 6 42704546 missense variant G/A snv 4.0E-06 7.0E-06
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 2015 2015