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rs3735967

From SNPedia

Orientationminus
Stabilizedminus
Make rs3735967(C;C)
Make rs3735967(C;T)
Make rs3735967(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position86666870
GeneCNGB3
is asnp
is mentioned by
dbSNPrs3735967
ebirs3735967
HLIrs3735967
Exacrs3735967
Varsomers3735967
Maprs3735967
PheGenIrs3735967
hapmaprs3735967
1000 genomesrs3735967
hgdprs3735967
ensemblrs3735967
gopubmedrs3735967
geneviewrs3735967
scholarrs3735967
googlers3735967
pharmgkbrs3735967
gwascentralrs3735967
openSNPrs3735967
23andMers3735967
23andMe allrs3735967
SNP Nexus

SNPshotrs3735967
SNPdbers3735967
MSV3drs3735967
GWAS Ctlgrs3735967
GMAF0.3779
Max Magnitude
? (C;C) (C;T) (T;T) 28
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.[PMID 17265047]