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rs121918344

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Carrier for colorblindness related condition
(T;T) 4 Complete achromatopsia (color-blindness)
ReferenceGRCh38 38.1/141
Chromosome8
Position86632768
GeneCNGB3
is asnp
is mentioned by
dbSNPrs121918344
ebirs121918344
HLIrs121918344
Exacrs121918344
Varsomers121918344
Maprs121918344
PheGenIrs121918344
hapmaprs121918344
1000 genomesrs121918344
hgdprs121918344
ensemblrs121918344
gopubmedrs121918344
geneviewrs121918344
scholarrs121918344
googlers121918344
pharmgkbrs121918344
gwascentralrs121918344
openSNPrs121918344
23andMers121918344
23andMe allrs121918344
SNP Nexus

SNPshotrs121918344
SNPdbers121918344
MSV3drs121918344
GWAS Ctlgrs121918344
Max Magnitude4

rs121918344, also known as S435F or SER322PHE, is a SNP in the cyclic nucleotide-gated channel beta-3 CNGB3 gene.

Originally observed in Pingelapese islanders, a condition involving total colorblindness, photophobia, nystagmus, 20/200 visual acuity, yet a normal-appearing retina, was eventually found by sequence analysis to be due to a C-to-T transition causing a serine-to-phenylalanine substitution at amino acid 435 of this (CNGB3) gene.[PMID 10888875]

OMIM605080
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918344(T;T)
Alt rs121918344(T;T)
Reference rs121918344(C;C)
Significance Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87644996G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005532.2,