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rs28940273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.5
(G;G) 0 common in clinvar
Make rs28940273(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61955749
GeneBEST1
is asnp
is mentioned by
dbSNPrs28940273
ebirs28940273
HLIrs28940273
Exacrs28940273
Varsomers28940273
Maprs28940273
PheGenIrs28940273
hapmaprs28940273
1000 genomesrs28940273
hgdprs28940273
ensemblrs28940273
gopubmedrs28940273
geneviewrs28940273
scholarrs28940273
googlers28940273
pharmgkbrs28940273
gwascentralrs28940273
openSNPrs28940273
23andMers28940273
23andMe allrs28940273
SNP Nexus

SNPshotrs28940273
SNPdbers28940273
MSV3drs28940273
GWAS Ctlgrs28940273
Max Magnitude2.5
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0001
Relatedalso
Neighborrs28940274
Distance26


ClinVar
Risk rs28940273(C;C)
Alt rs28940273(C;C)
Reference rs28940273(G;G)
Significance Pathogenic
Disease Vitelliform dystrophy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy not provided
Reversed 0
HGVS NC_000011.9:g.61723221G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002846.3, RCV000086116.1,