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rs267606676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606676(A;A)
Make rs267606676(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61957432
GeneBEST1, LOC107984334
is asnp
is mentioned by
dbSNPrs267606676
dbSNP (classic)rs267606676
ClinGenrs267606676
ebirs267606676
HLIrs267606676
Exacrs267606676
Gnomadrs267606676
Varsomers267606676
LitVarrs267606676
Maprs267606676
PheGenIrs267606676
Biobankrs267606676
1000 genomesrs267606676
hgdprs267606676
ensemblrs267606676
geneviewrs267606676
scholarrs267606676
googlers267606676
pharmgkbrs267606676
gwascentralrs267606676
openSNPrs267606676
23andMers267606676
SNPshotrs267606676
SNPdbers267606676
MSV3drs267606676
GWAS Ctlgrs267606676
Max Magnitude0
ClinVar
Risk rs267606676(A;A)
Alt rs267606676(A;A)
Reference Rs267606676(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 50 Retinitis pigmentosa not provided
Variation info
Gene BEST1
CLNDBN Retinitis pigmentosa 50 Retinitis pigmentosa, concentric not provided
Reversed 0
HGVS NC_000011.9:g.61724904G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002871.4, RCV000002872.4, RCV000417725.1,