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rs773372519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs773372519(A;C)
Make rs773372519(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position86644689
GeneCNGB3
is asnp
is mentioned by
dbSNPrs773372519
dbSNP (classic)rs773372519
ClinGenrs773372519
ebirs773372519
HLIrs773372519
Exacrs773372519
Gnomadrs773372519
Varsomers773372519
LitVarrs773372519
Maprs773372519
PheGenIrs773372519
Biobankrs773372519
1000 genomesrs773372519
hgdprs773372519
ensemblrs773372519
geneviewrs773372519
scholarrs773372519
googlers773372519
pharmgkbrs773372519
gwascentralrs773372519
openSNPrs773372519
23andMers773372519
SNPshotrs773372519
SNPdbers773372519
MSV3drs773372519
GWAS Ctlgrs773372519
Max Magnitude0
ClinVar
Risk rs773372519(C;C) rs773372519(G;G)
Alt rs773372519(C;C) rs773372519(G;G)
Reference Rs773372519(A;A)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 0
HGVS NC_000008.10:g.87656917A>C
CLNSRC
CLNACC RCV000169173.1,