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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
ebirs6471482
HLIrs6471482
Exacrs6471482
Varsomers6471482
Maprs6471482
PheGenIrs6471482
hapmaprs6471482
1000 genomesrs6471482
hgdprs6471482
ensemblrs6471482
gopubmedrs6471482
geneviewrs6471482
scholarrs6471482
googlers6471482
pharmgkbrs6471482
gwascentralrs6471482
openSNPrs6471482
23andMers6471482
23andMe allrs6471482
SNP Nexus

SNPshotrs6471482
SNPdbers6471482
MSV3drs6471482
GWAS Ctlgrs6471482
GMAF0.06841
Max Magnitude1.5
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene CNGB3
allele C
frequency 0.833
sift AFFECT FUNCTION
HuRef 1103652373267
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-C234W
aa_change Cys234Trp
aa_change_short C234W
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.87981
summary