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rs121918286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918286(C;T)
Make rs121918286(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61956960
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918286
ebirs121918286
HLIrs121918286
Exacrs121918286
Varsomers121918286
Maprs121918286
PheGenIrs121918286
hapmaprs121918286
1000 genomesrs121918286
hgdprs121918286
ensemblrs121918286
gopubmedrs121918286
geneviewrs121918286
scholarrs121918286
googlers121918286
pharmgkbrs121918286
gwascentralrs121918286
openSNPrs121918286
23andMers121918286
23andMe allrs121918286
SNP Nexus

SNPshotrs121918286
SNPdbers121918286
MSV3drs121918286
GWAS Ctlgrs121918286
Max Magnitude0
OMIM607854
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918286(T;T)
Alt rs121918286(T;T)
Reference rs121918286(C;C)
Significance Pathogenic
Disease Bestrophinopathy
Variation info
Gene BEST1
CLNDBN Bestrophinopathy, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.61724432C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002864.3,