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rs13265557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0.1 rare variation in a gene influencing color perception
(T;T) 0 common in complete genomics
Make rs13265557(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position86647872
GeneCNGB3
is asnp
is mentioned by
dbSNPrs13265557
dbSNP (classic)rs13265557
ClinGenrs13265557
ebirs13265557
HLIrs13265557
Exacrs13265557
Gnomadrs13265557
Varsomers13265557
LitVarrs13265557
Maprs13265557
PheGenIrs13265557
Biobankrs13265557
1000 genomesrs13265557
hgdprs13265557
ensemblrs13265557
geneviewrs13265557
scholarrs13265557
googlers13265557
pharmgkbrs13265557
gwascentralrs13265557
openSNPrs13265557
23andMers13265557
23andMe allrs13265557
SNPshotrs13265557
SNPdbers13265557
MSV3drs13265557
GWAS Ctlgrs13265557
GMAF0.05739
Max Magnitude0.1
? (C;C) (C;T) (T;T) 28




ClinVar
Risk Rs13265557(C;C)
Alt Rs13265557(C;C)
Reference Rs13265557(T;T)
Significance Probable-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.87660100T>C
CLNSRC
CLNACC RCV000242961.2, RCV000286399.1, RCV000376272.1,