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rs35365413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs35365413(A;C)
Make rs35365413(C;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position86628994
GeneCNGB3
is asnp
is mentioned by
dbSNPrs35365413
ebirs35365413
HLIrs35365413
Exacrs35365413
Varsomers35365413
Maprs35365413
PheGenIrs35365413
hapmaprs35365413
1000 genomesrs35365413
hgdprs35365413
ensemblrs35365413
gopubmedrs35365413
geneviewrs35365413
scholarrs35365413
googlers35365413
pharmgkbrs35365413
gwascentralrs35365413
openSNPrs35365413
23andMers35365413
23andMe allrs35365413
SNP Nexus

SNPshotrs35365413
SNPdbers35365413
MSV3drs35365413
GWAS Ctlgrs35365413
GMAF0.001377
Max Magnitude0
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.[PMID 15712225]
OMIM605080
Desc
Variant0006
Relatedalso


ClinVar
Risk rs35365413(C,T;C,T)
Alt rs35365413(C,T;C,T)
Reference rs35365413(A;A)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene CNGB3
CLNDBN Stargardt disease 1
Reversed 0
HGVS NC_000008.10:g.87641222A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005538.2,