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rs121918287

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918287(A;A)
Make rs121918287(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position61959892
GeneBEST1
is asnp
is mentioned by
dbSNPrs121918287
ebirs121918287
HLIrs121918287
Exacrs121918287
Varsomers121918287
Maprs121918287
PheGenIrs121918287
hapmaprs121918287
1000 genomesrs121918287
hgdprs121918287
ensemblrs121918287
gopubmedrs121918287
geneviewrs121918287
scholarrs121918287
googlers121918287
pharmgkbrs121918287
gwascentralrs121918287
openSNPrs121918287
23andMers121918287
23andMe allrs121918287
SNP Nexus

SNPshotrs121918287
SNPdbers121918287
MSV3drs121918287
GWAS Ctlgrs121918287
Max Magnitude0
OMIM607854
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918287(A;A)
Alt rs121918287(A;A)
Reference rs121918287(G;G)
Significance Pathogenic
Disease Bestrophinopathy
Variation info
Gene BEST1
CLNDBN Bestrophinopathy, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.61727364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002865.3,