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rs6471482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.5
(C;C) 0 common on affy axiom data
Make rs6471482(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position86667075
GeneCNGB3
is asnp
is mentioned by
dbSNPrs6471482
dbSNP (classic)rs6471482
ClinGenrs6471482
ebirs6471482
HLIrs6471482
Exacrs6471482
Gnomadrs6471482
Varsomers6471482
LitVarrs6471482
Maprs6471482
PheGenIrs6471482
Biobankrs6471482
1000 genomesrs6471482
hgdprs6471482
ensemblrs6471482
geneviewrs6471482
scholarrs6471482
googlers6471482
pharmgkbrs6471482
gwascentralrs6471482
openSNPrs6471482
23andMers6471482
23andMe allrs6471482
SNPshotrs6471482
SNPdbers6471482
MSV3drs6471482
GWAS Ctlgrs6471482
GMAF0.06841
Max Magnitude1.5
? (A;A) (A;C) (C;C) 28





ClinVar
Risk Rs6471482(C;C)
Alt Rs6471482(C;C)
Reference Rs6471482(A;A)
Significance Non-pathogenic
Disease not specified Achromatopsia Stargardt Disease
Variation info
Gene CNGB3
CLNDBN not specified Achromatopsia Stargardt Disease, Recessive
Reversed 0
HGVS NC_000008.10:g.87679303A>C
CLNSRC
CLNACC RCV000250693.1, RCV000310169.1, RCV000364988.1,