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rs1057516571

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516571(-;-)
Make rs1057516571(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86579126
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516571
dbSNP (old)rs1057516571
ClinGenrs1057516571
ebirs1057516571
HLIrs1057516571
Exacrs1057516571
Gnomadrs1057516571
Varsomers1057516571
LitVarrs1057516571
Maprs1057516571
PheGenIrs1057516571
Biobankrs1057516571
1000 genomesrs1057516571
hgdprs1057516571
ensemblrs1057516571
gopubmedrs1057516571
geneviewrs1057516571
scholarrs1057516571
googlers1057516571
pharmgkbrs1057516571
gwascentralrs1057516571
openSNPrs1057516571
23andMers1057516571
23andMe allrs1057516571
SNPshotrs1057516571
SNPdbers1057516571
MSV3drs1057516571
GWAS Ctlgrs1057516571
Max Magnitude0
ClinVar
Risk rs1057516571(-;-)
Alt rs1057516571(-;-)
Reference Rs1057516571(G;G)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87591354delC
CLNSRC
CLNACC RCV000410311.1,