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rs199529046

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199529046(C;C)
Make rs199529046(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position61956964
GeneBEST1
is asnp
is mentioned by
dbSNPrs199529046
ebirs199529046
HLIrs199529046
Exacrs199529046
Varsomers199529046
Maprs199529046
PheGenIrs199529046
hapmaprs199529046
1000 genomesrs199529046
hgdprs199529046
ensemblrs199529046
gopubmedrs199529046
geneviewrs199529046
scholarrs199529046
googlers199529046
pharmgkbrs199529046
gwascentralrs199529046
openSNPrs199529046
23andMers199529046
23andMe allrs199529046
SNP Nexus

SNPshotrs199529046
SNPdbers199529046
MSV3drs199529046
GWAS Ctlgrs199529046
Max Magnitude0
ClinVar
Risk rs199529046(C;C)
Alt rs199529046(C;C)
Reference rs199529046(T;T)
Significance Probable-Pathogenic
Disease not provided Bestrophinopathy
Variation info
Gene BEST1
CLNDBN not provided Bestrophinopathy, autosomal recessive
Reversed 0
HGVS NC_000011.9:g.61724436T>C
CLNSRC
CLNACC RCV000086141.1, RCV000169651.1,