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rs1057517454

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517454(C;C)
Make rs1057517454(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86579104
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517454
dbSNP (old)rs1057517454
ClinGenrs1057517454
ebirs1057517454
HLIrs1057517454
Exacrs1057517454
Gnomadrs1057517454
Varsomers1057517454
Maprs1057517454
PheGenIrs1057517454
Biobankrs1057517454
1000 genomesrs1057517454
hgdprs1057517454
ensemblrs1057517454
gopubmedrs1057517454
geneviewrs1057517454
scholarrs1057517454
googlers1057517454
pharmgkbrs1057517454
gwascentralrs1057517454
openSNPrs1057517454
23andMers1057517454
23andMe allrs1057517454
SNPshotrs1057517454
SNPdbers1057517454
MSV3drs1057517454
GWAS Ctlgrs1057517454
Max Magnitude0
ClinVar
Risk rs1057517454(C;C)
Alt rs1057517454(C;C)
Reference Rs1057517454(T;T)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87591332A>G
CLNSRC
CLNACC RCV000411120.1,