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rs121918567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918567(G;T)
Make rs121918567(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position42704609
GenePRPH2
is asnp
is mentioned by
dbSNPrs121918567
dbSNP (old)rs121918567
ClinGenrs121918567
ebirs121918567
HLIrs121918567
Exacrs121918567
Gnomadrs121918567
Varsomers121918567
Maprs121918567
PheGenIrs121918567
Biobankrs121918567
1000 genomesrs121918567
hgdprs121918567
ensemblrs121918567
gopubmedrs121918567
geneviewrs121918567
scholarrs121918567
googlers121918567
pharmgkbrs121918567
gwascentralrs121918567
openSNPrs121918567
23andMers121918567
23andMe allrs121918567
SNP Nexus

SNPshotrs121918567
SNPdbers121918567
MSV3drs121918567
GWAS Ctlgrs121918567
GMAF0.0004591
Max Magnitude0
OMIM179605
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918567(T;T)
Alt rs121918567(T;T)
Reference Rs121918567(G;G)
Significance Pathogenic
Disease Choroidal dystrophy not provided
Variation info
Gene PRPH2
CLNDBN Choroidal dystrophy, central areolar 2 not provided
Reversed 1
HGVS NC_000006.11:g.42672347C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014070.25, RCV000084990.1,