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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
ebirs3735972
HLIrs3735972
Exacrs3735972
Varsomers3735972
Maprs3735972
PheGenIrs3735972
hapmaprs3735972
1000 genomesrs3735972
hgdprs3735972
ensemblrs3735972
gopubmedrs3735972
geneviewrs3735972
scholarrs3735972
googlers3735972
pharmgkbrs3735972
gwascentralrs3735972
openSNPrs3735972
23andMers3735972
23andMe allrs3735972
SNP Nexus

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


Venter snp
Source plos
Gene CNGB3
allele C
frequency
sift TOLERATED
HuRef 1103652373042
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-E755G
aa_change Glu755Gly
aa_change_short E755G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0827291
summary



ClinVar
Risk rs3735972(G;G)
Alt rs3735972(G;G)
Reference rs3735972(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CNGB3
CLNDBN not specified
Reversed 1
HGVS NC_000008.10:g.87588198T>C
CLNSRC
CLNACC RCV000153049.3,