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rs28941469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28941469(A;A)
Make rs28941469(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61957429
GeneBEST1
is asnp
is mentioned by
dbSNPrs28941469
ebirs28941469
HLIrs28941469
Exacrs28941469
Varsomers28941469
Maprs28941469
PheGenIrs28941469
hapmaprs28941469
1000 genomesrs28941469
hgdprs28941469
ensemblrs28941469
gopubmedrs28941469
geneviewrs28941469
scholarrs28941469
googlers28941469
pharmgkbrs28941469
gwascentralrs28941469
openSNPrs28941469
23andMers28941469
23andMe allrs28941469
SNP Nexus

SNPshotrs28941469
SNPdbers28941469
MSV3drs28941469
GWAS Ctlgrs28941469
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0004
Relatedalso
Neighborrs28940570
Distance730


ClinVar
Risk rs28941469(A;A)
Alt rs28941469(A;A)
Reference rs28941469(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.61724901T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002850.4, RCV000086157.1,