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rs201794629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201794629(C;G)
Make rs201794629(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position86667134
GeneCNGB3
is asnp
is mentioned by
dbSNPrs201794629
dbSNP (classic)rs201794629
ClinGenrs201794629
ebirs201794629
HLIrs201794629
Exacrs201794629
Gnomadrs201794629
Varsomers201794629
LitVarrs201794629
Maprs201794629
PheGenIrs201794629
Biobankrs201794629
1000 genomesrs201794629
hgdprs201794629
ensemblrs201794629
geneviewrs201794629
scholarrs201794629
googlers201794629
pharmgkbrs201794629
gwascentralrs201794629
openSNPrs201794629
23andMers201794629
SNPshotrs201794629
SNPdbers201794629
MSV3drs201794629
GWAS Ctlgrs201794629
Max Magnitude0
ClinVar
Risk rs201794629(G;G)
Alt rs201794629(G;G)
Reference Rs201794629(C;C)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 0
HGVS NC_000008.10:g.87679362C>G
CLNSRC
CLNACC RCV000169108.1,