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rs1057516825

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516825(A;A)
Make rs1057516825(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86628918
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516825
dbSNP (classic)rs1057516825
ClinGenrs1057516825
ebirs1057516825
HLIrs1057516825
Exacrs1057516825
Gnomadrs1057516825
Varsomers1057516825
LitVarrs1057516825
Maprs1057516825
PheGenIrs1057516825
Biobankrs1057516825
1000 genomesrs1057516825
hgdprs1057516825
ensemblrs1057516825
geneviewrs1057516825
scholarrs1057516825
googlers1057516825
pharmgkbrs1057516825
gwascentralrs1057516825
openSNPrs1057516825
23andMers1057516825
SNPshotrs1057516825
SNPdbers1057516825
MSV3drs1057516825
GWAS Ctlgrs1057516825
Max Magnitude0
ClinVar
Risk rs1057516825(A;A)
Alt rs1057516825(A;A)
Reference Rs1057516825(G;G)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87641146C>T
CLNSRC
CLNACC RCV000412081.1,