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rs121918288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918288(C;C)
Make rs121918288(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61951928
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918288
ebirs121918288
HLIrs121918288
Exacrs121918288
Varsomers121918288
Maprs121918288
PheGenIrs121918288
hapmaprs121918288
1000 genomesrs121918288
hgdprs121918288
ensemblrs121918288
gopubmedrs121918288
geneviewrs121918288
scholarrs121918288
googlers121918288
pharmgkbrs121918288
gwascentralrs121918288
openSNPrs121918288
23andMers121918288
23andMe allrs121918288
SNP Nexus

SNPshotrs121918288
SNPdbers121918288
MSV3drs121918288
GWAS Ctlgrs121918288
Max Magnitude0
OMIM607854
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121918288(C;C)
Alt rs121918288(C;C)
Reference rs121918288(T;T)
Significance Pathogenic
Disease Bestrophinopathy not provided
Variation info
Gene BEST1
CLNDBN Bestrophinopathy, autosomal recessive not provided
Reversed 0
HGVS NC_000011.9:g.61719400T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002866.3, RCV000086085.1,