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rs121918284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918284(A;A)
Make rs121918284(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61955892
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918284
ebirs121918284
HLIrs121918284
Exacrs121918284
Varsomers121918284
Maprs121918284
PheGenIrs121918284
hapmaprs121918284
1000 genomesrs121918284
hgdprs121918284
ensemblrs121918284
gopubmedrs121918284
geneviewrs121918284
scholarrs121918284
googlers121918284
pharmgkbrs121918284
gwascentralrs121918284
openSNPrs121918284
23andMers121918284
23andMe allrs121918284
SNP Nexus

SNPshotrs121918284
SNPdbers121918284
MSV3drs121918284
GWAS Ctlgrs121918284
GMAF0.0004591
Max Magnitude0
OMIM607854
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918284(A;A)
Alt rs121918284(A;A)
Reference rs121918284(G;G)
Significance Pathogenic
Disease Vitelliform dystrophy Bestrophinopathy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy Bestrophinopathy, autosomal recessive not provided
Reversed 0
HGVS NC_000011.9:g.61723364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002862.4, RCV000002863.4, RCV000086135.1,