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rs1057516504

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516504(A;A)
Make rs1057516504(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86611672
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516504
dbSNP (old)rs1057516504
ClinGenrs1057516504
ebirs1057516504
HLIrs1057516504
Exacrs1057516504
Gnomadrs1057516504
Varsomers1057516504
Maprs1057516504
PheGenIrs1057516504
Biobankrs1057516504
1000 genomesrs1057516504
hgdprs1057516504
ensemblrs1057516504
gopubmedrs1057516504
geneviewrs1057516504
scholarrs1057516504
googlers1057516504
pharmgkbrs1057516504
gwascentralrs1057516504
openSNPrs1057516504
23andMers1057516504
23andMe allrs1057516504
SNPshotrs1057516504
SNPdbers1057516504
MSV3drs1057516504
GWAS Ctlgrs1057516504
Max Magnitude0
ClinVar
Risk rs1057516504(A;A)
Alt rs1057516504(A;A)
Reference Rs1057516504(G;G)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87623900C>T
CLNSRC
CLNACC RCV000409806.1,