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: 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: 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: rs434102
rs434102 		1.000 0.040 6 42698323 missense variant T/A;C;G snv 0.78; 1.2E-05
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		Eye Diseases 0.010 1.000 1 1997 1997
dbSNP: rs61755766
rs61755766 		1.000 0.040 6 42722255 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.010 1.000 1 1997 1997
dbSNP: rs61755814
rs61755814 		1.000 0.040 6 42704478 stop gained G/A snv
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		Eye Diseases 0.700 1.000 1 2019 2019
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: 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: 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: rs672601326
rs672601326 		1.000 0.040 6 42721913 frameshift variant -/AGTA delins
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		Eye Diseases 0.700 0
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: 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: 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: 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: 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: 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