PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: MACULAR DYSTROPHY, PATTERNED, 1 ×
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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