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rs121918566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918566(A;A)
Make rs121918566(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position42698389
GeneLOC101929618, PRPH2
is asnp
is mentioned by
dbSNPrs121918566
ebirs121918566
HLIrs121918566
Exacrs121918566
Varsomers121918566
Maprs121918566
PheGenIrs121918566
hapmaprs121918566
1000 genomesrs121918566
hgdprs121918566
ensemblrs121918566
gopubmedrs121918566
geneviewrs121918566
scholarrs121918566
googlers121918566
pharmgkbrs121918566
gwascentralrs121918566
openSNPrs121918566
23andMers121918566
23andMe allrs121918566
SNP Nexus

SNPshotrs121918566
SNPdbers121918566
MSV3drs121918566
GWAS Ctlgrs121918566
Max Magnitude0
OMIM179605
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918566(A;A)
Alt rs121918566(A;A)
Reference rs121918566(G;G)
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.42666127C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014062.19, RCV000085035.1,