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rs1057517167

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517167(A;T)
Make rs1057517167(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86632895
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517167
dbSNP (old)rs1057517167
ClinGenrs1057517167
ebirs1057517167
HLIrs1057517167
Exacrs1057517167
Gnomadrs1057517167
Varsomers1057517167
Maprs1057517167
PheGenIrs1057517167
Biobankrs1057517167
1000 genomesrs1057517167
hgdprs1057517167
ensemblrs1057517167
gopubmedrs1057517167
geneviewrs1057517167
scholarrs1057517167
googlers1057517167
pharmgkbrs1057517167
gwascentralrs1057517167
openSNPrs1057517167
23andMers1057517167
23andMe allrs1057517167
SNPshotrs1057517167
SNPdbers1057517167
MSV3drs1057517167
GWAS Ctlgrs1057517167
Max Magnitude0
ClinVar
Risk rs1057517167(T;T)
Alt rs1057517167(T;T)
Reference Rs1057517167(A;A)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87645123T>A
CLNSRC
CLNACC RCV000412299.1,