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rs1057516866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516866(-;-)
Make rs1057516866(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86632812
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516866
dbSNP (old)rs1057516866
ClinGenrs1057516866
ebirs1057516866
HLIrs1057516866
Exacrs1057516866
Gnomadrs1057516866
Varsomers1057516866
LitVarrs1057516866
Maprs1057516866
PheGenIrs1057516866
Biobankrs1057516866
1000 genomesrs1057516866
hgdprs1057516866
ensemblrs1057516866
gopubmedrs1057516866
geneviewrs1057516866
scholarrs1057516866
googlers1057516866
pharmgkbrs1057516866
gwascentralrs1057516866
openSNPrs1057516866
23andMers1057516866
23andMe allrs1057516866
SNPshotrs1057516866
SNPdbers1057516866
MSV3drs1057516866
GWAS Ctlgrs1057516866
Max Magnitude0
ClinVar
Risk rs1057516866(-;-)
Alt rs1057516866(-;-)
Reference Rs1057516866(T;T)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87645040delA
CLNSRC
CLNACC RCV000411676.1,