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rs28941468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28941468(A;A)
Make rs28941468(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61959526
GeneBEST1, LOC107984334
is asnp
is mentioned by
dbSNPrs28941468
dbSNP (classic)rs28941468
ClinGenrs28941468
ebirs28941468
HLIrs28941468
Exacrs28941468
Gnomadrs28941468
Varsomers28941468
LitVarrs28941468
Maprs28941468
PheGenIrs28941468
Biobankrs28941468
1000 genomesrs28941468
hgdprs28941468
ensemblrs28941468
geneviewrs28941468
scholarrs28941468
googlers28941468
pharmgkbrs28941468
gwascentralrs28941468
openSNPrs28941468
23andMers28941468
SNPshotrs28941468
SNPdbers28941468
MSV3drs28941468
GWAS Ctlgrs28941468
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0003
Relatedalso


ClinVar
Risk rs28941468(A;A)
Alt rs28941468(A;A)
Reference Rs28941468(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.61726998G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002848.4, RCV000086186.1,