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rs267606677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606677(A;G)
Make rs267606677(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61957430
GeneBEST1, LOC107984334
is asnp
is mentioned by
dbSNPrs267606677
dbSNP (classic)rs267606677
ClinGenrs267606677
ebirs267606677
HLIrs267606677
Exacrs267606677
Gnomadrs267606677
Varsomers267606677
LitVarrs267606677
Maprs267606677
PheGenIrs267606677
Biobankrs267606677
1000 genomesrs267606677
hgdprs267606677
ensemblrs267606677
geneviewrs267606677
scholarrs267606677
googlers267606677
pharmgkbrs267606677
gwascentralrs267606677
openSNPrs267606677
23andMers267606677
SNPshotrs267606677
SNPdbers267606677
MSV3drs267606677
GWAS Ctlgrs267606677
Max Magnitude0
ClinVar
Risk rs267606677(G;G)
Alt rs267606677(G;G)
Reference Rs267606677(A;A)
Significance Pathogenic
Disease Vitelliform macular dystrophy type 2 Retinitis pigmentosa not provided
Variation info
Gene BEST1
CLNDBN Vitelliform macular dystrophy type 2 Retinitis pigmentosa, concentric not provided
Reversed 0
HGVS NC_000011.9:g.61724902A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002873.5, RCV000002874.5, RCV000086158.1,