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rs1057516878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516878(-;-)
Make rs1057516878(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86629033
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516878
dbSNP (old)rs1057516878
ClinGenrs1057516878
ebirs1057516878
HLIrs1057516878
Exacrs1057516878
Gnomadrs1057516878
Varsomers1057516878
Maprs1057516878
PheGenIrs1057516878
Biobankrs1057516878
1000 genomesrs1057516878
hgdprs1057516878
ensemblrs1057516878
gopubmedrs1057516878
geneviewrs1057516878
scholarrs1057516878
googlers1057516878
pharmgkbrs1057516878
gwascentralrs1057516878
openSNPrs1057516878
23andMers1057516878
23andMe allrs1057516878
SNPshotrs1057516878
SNPdbers1057516878
MSV3drs1057516878
GWAS Ctlgrs1057516878
Max Magnitude0
ClinVar
Risk rs1057516878(-;-)
Alt rs1057516878(-;-)
Reference Rs1057516878(C;C)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87641261delG
CLNSRC
CLNACC RCV000410652.1,