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rs4961206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs4961206(G;G)
Make rs4961206(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position86654023
GeneCNGB3
is asnp
is mentioned by
dbSNPrs4961206
dbSNP (classic)rs4961206
ClinGenrs4961206
ebirs4961206
HLIrs4961206
Exacrs4961206
Gnomadrs4961206
Varsomers4961206
LitVarrs4961206
Maprs4961206
PheGenIrs4961206
Biobankrs4961206
1000 genomesrs4961206
hgdprs4961206
ensemblrs4961206
geneviewrs4961206
scholarrs4961206
googlers4961206
pharmgkbrs4961206
gwascentralrs4961206
openSNPrs4961206
23andMers4961206
SNPshotrs4961206
SNPdbers4961206
MSV3drs4961206
GWAS Ctlgrs4961206
GMAF0.3421
Max Magnitude0
? (G;G) (G;T) (T;T) 28





ClinVar
Risk rs4961206(A;A) rs4961206(G;G)
Alt rs4961206(A;A) rs4961206(G;G)
Reference Rs4961206(T;T)
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.87666251T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000081979.5, RCV000337843.1, RCV000373837.1,