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rs28940275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28940275(A;C)
Make rs28940275(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position61951822
GeneBEST1
is asnp
is mentioned by
dbSNPrs28940275
ebirs28940275
HLIrs28940275
Exacrs28940275
Varsomers28940275
Maprs28940275
PheGenIrs28940275
hapmaprs28940275
1000 genomesrs28940275
hgdprs28940275
ensemblrs28940275
gopubmedrs28940275
geneviewrs28940275
scholarrs28940275
googlers28940275
pharmgkbrs28940275
gwascentralrs28940275
openSNPrs28940275
23andMers28940275
23andMe allrs28940275
SNP Nexus

SNPshotrs28940275
SNPdbers28940275
MSV3drs28940275
GWAS Ctlgrs28940275
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0005
Relatedalso
Neighborrs28940276
Distance9
ClinVar
Risk rs28940275(C;C)
Alt rs28940275(C;C)
Reference rs28940275(A;A)
Significance Pathogenic
Disease Vitelliform dystrophy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy not provided
Reversed 0
HGVS NC_000011.9:g.61719294A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002851.3, RCV000086095.1,