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rs28940276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940276(A;A)
Make rs28940276(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61951831
GeneBEST1
is asnp
is mentioned by
dbSNPrs28940276
dbSNP (classic)rs28940276
ClinGenrs28940276
ebirs28940276
HLIrs28940276
Exacrs28940276
Gnomadrs28940276
Varsomers28940276
LitVarrs28940276
Maprs28940276
PheGenIrs28940276
Biobankrs28940276
1000 genomesrs28940276
hgdprs28940276
ensemblrs28940276
geneviewrs28940276
scholarrs28940276
googlers28940276
pharmgkbrs28940276
gwascentralrs28940276
openSNPrs28940276
23andMers28940276
SNPshotrs28940276
SNPdbers28940276
MSV3drs28940276
GWAS Ctlgrs28940276
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0007
Relatedalso


ClinVar
Risk rs28940276(A;A)
Alt rs28940276(A;A)
Reference Rs28940276(G;G)
Significance Pathogenic
Disease Vitelliform macular dystrophy type 2 not provided
Variation info
Gene BEST1
CLNDBN Vitelliform macular dystrophy type 2 not provided
Reversed 0
HGVS NC_000011.9:g.61719303G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002855.3, RCV000086110.1,