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rs3735972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(G;G) 1.5
(T;T) 0
Make rs3735972(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position86575970
GeneCNGB3
is asnp
is mentioned by
dbSNPrs3735972
dbSNP (classic)rs3735972
ClinGenrs3735972
ebirs3735972
HLIrs3735972
Exacrs3735972
Gnomadrs3735972
Varsomers3735972
LitVarrs3735972
Maprs3735972
PheGenIrs3735972
Biobankrs3735972
1000 genomesrs3735972
hgdprs3735972
ensemblrs3735972
geneviewrs3735972
scholarrs3735972
googlers3735972
pharmgkbrs3735972
gwascentralrs3735972
openSNPrs3735972
23andMers3735972
23andMe allrs3735972
SNPshotrs3735972
SNPdbers3735972
MSV3drs3735972
GWAS Ctlgrs3735972
GMAF0.08127
Max Magnitude1.5

rs3735972, also known as E755G or Glu755Gly, is a SNP in the cyclic nucleotide gated-channel beta 3 CNGB3 gene.

Although this SNP causes an amino acid substitution, it is not known to have medical consequences, unlike some other SNPs in this same gene which are known to lead to various forms of color-blindness.[PMID 10958649]

? (A;A) (A;G) (G;G) 28





ClinVar
Risk Rs3735972(G;G)
Alt Rs3735972(G;G)
Reference Rs3735972(A;A)
Significance Probable-non-pathogenic
Disease not specified Stargardt Disease Achromatopsia
Variation info
Gene CNGB3
CLNDBN not specified Stargardt Disease, Recessive Achromatopsia
Reversed 1
HGVS NC_000008.10:g.87588198T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000153049.5, RCV000331014.1, RCV000367023.1,