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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
ebirs4961206
HLIrs4961206
Exacrs4961206
Varsomers4961206
Maprs4961206
PheGenIrs4961206
hapmaprs4961206
1000 genomesrs4961206
hgdprs4961206
ensemblrs4961206
gopubmedrs4961206
geneviewrs4961206
scholarrs4961206
googlers4961206
pharmgkbrs4961206
gwascentralrs4961206
openSNPrs4961206
23andMers4961206
23andMe allrs4961206
SNP Nexus

SNPshotrs4961206
SNPdbers4961206
MSV3drs4961206
GWAS Ctlgrs4961206
GMAF0.3421
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene CNGB3
allele G
frequency 0.367
sift TOLERATED
HuRef 1103652373235
Disease Association Defects in CNGB3 are a cause of achromatopsia 3 (ACHM3) (MIM:262300); also known as Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of the consistent concurrence of severe myopia.



GET Evidence
CNGB3-T298P
aa_change Thr298Pro
aa_change_short T298P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.642764
summary



ClinVar
Risk rs4961206(G;G)
Alt rs4961206(G;G)
Reference rs4961206(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CNGB3
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.87666251T>G
CLNSRC ClinVar Emory University
CLNACC RCV000081979.4,