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rs28940274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28940274(C;C)
Make rs28940274(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61955723
GeneBEST1
is asnp
is mentioned by
dbSNPrs28940274
ebirs28940274
HLIrs28940274
Exacrs28940274
Varsomers28940274
Maprs28940274
PheGenIrs28940274
hapmaprs28940274
1000 genomesrs28940274
hgdprs28940274
ensemblrs28940274
gopubmedrs28940274
geneviewrs28940274
scholarrs28940274
googlers28940274
pharmgkbrs28940274
gwascentralrs28940274
openSNPrs28940274
23andMers28940274
23andMe allrs28940274
SNP Nexus

SNPshotrs28940274
SNPdbers28940274
MSV3drs28940274
GWAS Ctlgrs28940274
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0002
Relatedalso
Neighborrs28940273
Distance26


ClinVar
Risk rs28940274(C;C)
Alt rs28940274(C;C)
Reference rs28940274(T;T)
Significance Pathogenic
Disease Vitelliform dystrophy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy not provided
Reversed 0
HGVS NC_000011.9:g.61723195T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002847.3, RCV000086109.1,