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rs425876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs425876(C;T)
Make rs425876(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position42698407
GenePRPH2
is asnp
is mentioned by
dbSNPrs425876
dbSNP (classic)rs425876
ClinGenrs425876
ebirs425876
HLIrs425876
Exacrs425876
Gnomadrs425876
Varsomers425876
LitVarrs425876
Maprs425876
PheGenIrs425876
Biobankrs425876
1000 genomesrs425876
hgdprs425876
ensemblrs425876
geneviewrs425876
scholarrs425876
googlers425876
pharmgkbrs425876
gwascentralrs425876
openSNPrs425876
23andMers425876
SNPshotrs425876
SNPdbers425876
MSV3drs425876
GWAS Ctlgrs425876
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 26849151] Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.

ClinVar
Risk rs425876(T;T)
Alt rs425876(T;T)
Reference Rs425876(C;C)
Significance Probable-non-pathogenic
Disease not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa Choroidal Dystrophy Fundus albipunctatus Vitelliform macular dystrophy Cone-Rod Dystrophy
Variation info
Gene PRPH2
CLNDBN not specified Patterned dystrophy of retinal pigment epithelium Retinitis Pigmentosa, Dominant Choroidal Dystrophy Fundus albipunctatus Vitelliform macular dystrophy Cone-Rod Dystrophy, Dominant
Reversed 0
HGVS NC_000006.11:g.42666145C>T
CLNSRC
CLNACC RCV000153780.5, RCV000273176.1, RCV000277056.1, RCV000328116.1, RCV000332083.1, RCV000367746.1, RCV000382760.1,