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rs1057517052

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517052(-;-)
Make rs1057517052(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86668095
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517052
dbSNP (old)rs1057517052
ClinGenrs1057517052
ebirs1057517052
HLIrs1057517052
Exacrs1057517052
Gnomadrs1057517052
Varsomers1057517052
Maprs1057517052
PheGenIrs1057517052
Biobankrs1057517052
1000 genomesrs1057517052
hgdprs1057517052
ensemblrs1057517052
gopubmedrs1057517052
geneviewrs1057517052
scholarrs1057517052
googlers1057517052
pharmgkbrs1057517052
gwascentralrs1057517052
openSNPrs1057517052
23andMers1057517052
23andMe allrs1057517052
SNPshotrs1057517052
SNPdbers1057517052
MSV3drs1057517052
GWAS Ctlgrs1057517052
Max Magnitude0
ClinVar
Risk rs1057517052(-;-)
Alt rs1057517052(-;-)
Reference Rs1057517052(G;G)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87680323delC
CLNSRC
CLNACC RCV000411187.1,