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rs121918564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918564(A;A)
Make rs121918564(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position42704419
GeneLOC101929618, PRPH2
is asnp
is mentioned by
dbSNPrs121918564
ebirs121918564
HLIrs121918564
Exacrs121918564
Varsomers121918564
Maprs121918564
PheGenIrs121918564
hapmaprs121918564
1000 genomesrs121918564
hgdprs121918564
ensemblrs121918564
gopubmedrs121918564
geneviewrs121918564
scholarrs121918564
googlers121918564
pharmgkbrs121918564
gwascentralrs121918564
openSNPrs121918564
23andMers121918564
23andMe allrs121918564
SNP Nexus

SNPshotrs121918564
SNPdbers121918564
MSV3drs121918564
GWAS Ctlgrs121918564
Max Magnitude0
OMIM179605
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918564(A;A)
Alt rs121918564(A;A)
Reference rs121918564(C;C)
Significance Pathogenic
Disease Macular dystrophy
Variation info
Gene PRPH2
CLNDBN Macular dystrophy, vitelliform, adult-onset
Reversed 1
HGVS NC_000006.11:g.42672157G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014054.26,