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rs28940570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940570(C;T)
Make rs28940570(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position61958159
GeneBEST1
is asnp
is mentioned by
dbSNPrs28940570
ebirs28940570
HLIrs28940570
Exacrs28940570
Varsomers28940570
Maprs28940570
PheGenIrs28940570
hapmaprs28940570
1000 genomesrs28940570
hgdprs28940570
ensemblrs28940570
gopubmedrs28940570
geneviewrs28940570
scholarrs28940570
googlers28940570
pharmgkbrs28940570
gwascentralrs28940570
openSNPrs28940570
23andMers28940570
23andMe allrs28940570
SNP Nexus

SNPshotrs28940570
SNPdbers28940570
MSV3drs28940570
GWAS Ctlgrs28940570
Max Magnitude0
OMIM607854
DescBEST MACULAR DYSTROPHY
Variant0010
Relatedalso
Neighborrs28941469
Distance730


ClinVar
Risk rs28940570(T;T)
Alt rs28940570(T;T)
Reference rs28940570(C;C)
Significance Pathogenic
Disease Vitelliform dystrophy not provided
Variation info
Gene BEST1
CLNDBN Vitelliform dystrophy not provided
Reversed 0
HGVS NC_000011.9:g.61725631C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002858.3, RCV000086167.1,