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rs121918565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918565(C;C)
Make rs121918565(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42722333
GenePRPH2
is asnp
is mentioned by
dbSNPrs121918565
ebirs121918565
HLIrs121918565
Exacrs121918565
Varsomers121918565
Maprs121918565
PheGenIrs121918565
hapmaprs121918565
1000 genomesrs121918565
hgdprs121918565
ensemblrs121918565
gopubmedrs121918565
geneviewrs121918565
scholarrs121918565
googlers121918565
pharmgkbrs121918565
gwascentralrs121918565
openSNPrs121918565
23andMers121918565
23andMe allrs121918565
SNP Nexus

SNPshotrs121918565
SNPdbers121918565
MSV3drs121918565
GWAS Ctlgrs121918565
Max Magnitude0
OMIM179605
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918565(C;C)
Alt rs121918565(C;C)
Reference rs121918565(T;T)
Significance Pathogenic
Disease Macular dystrophy not provided
Variation info
Gene PRPH2
CLNDBN Macular dystrophy, vitelliform, adult-onset not provided
Reversed 1
HGVS NC_000006.11:g.42690071A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014061.26, RCV000084961.1,