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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
ebirs13265557
HLIrs13265557
Exacrs13265557
Varsomers13265557
Maprs13265557
PheGenIrs13265557
hapmaprs13265557
1000 genomesrs13265557
hgdprs13265557
ensemblrs13265557
gopubmedrs13265557
geneviewrs13265557
scholarrs13265557
googlers13265557
pharmgkbrs13265557
gwascentralrs13265557
openSNPrs13265557
23andMers13265557
23andMe allrs13265557
SNP Nexus

SNPshotrs13265557
SNPdbers13265557
MSV3drs13265557
GWAS Ctlgrs13265557
GMAF0.05739
Max Magnitude0.1
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene CNGB3
allele C
frequency 0.075
sift AFFECT FUNCTION
HuRef 1103652373221
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-I307V
aa_change Ile307Val
aa_change_short I307V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.057281
summary