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rs121918285

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918285(C;G)
Make rs121918285(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61951893
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918285
dbSNP (classic)rs121918285
ClinGenrs121918285
ebirs121918285
HLIrs121918285
Exacrs121918285
Gnomadrs121918285
Varsomers121918285
LitVarrs121918285
Maprs121918285
PheGenIrs121918285
Biobankrs121918285
1000 genomesrs121918285
hgdprs121918285
ensemblrs121918285
geneviewrs121918285
scholarrs121918285
googlers121918285
pharmgkbrs121918285
gwascentralrs121918285
openSNPrs121918285
23andMers121918285
SNPshotrs121918285
SNPdbers121918285
MSV3drs121918285
GWAS Ctlgrs121918285
Max Magnitude0
OMIM607854
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918285(G;G) rs121918285(T;T)
Alt rs121918285(G;G) rs121918285(T;T)
Reference Rs121918285(C;C)
Significance Pathogenic
Disease Vitelliform macular dystrophy type 2 not provided
Variation info
Gene BEST1
CLNDBN Vitelliform macular dystrophy type 2 not provided
Reversed 0
HGVS NC_000011.9:g.61719365C>G; NC_000011.9:g.61719365C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002849.4, RCV000086177.1,