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rs1057517434

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057517434(-;-)
Make rs1057517434(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86726648
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057517434
dbSNP (old)rs1057517434
ClinGenrs1057517434
ebirs1057517434
HLIrs1057517434
Exacrs1057517434
Gnomadrs1057517434
Varsomers1057517434
Maprs1057517434
PheGenIrs1057517434
Biobankrs1057517434
1000 genomesrs1057517434
hgdprs1057517434
ensemblrs1057517434
gopubmedrs1057517434
geneviewrs1057517434
scholarrs1057517434
googlers1057517434
pharmgkbrs1057517434
gwascentralrs1057517434
openSNPrs1057517434
23andMers1057517434
23andMe allrs1057517434
SNPshotrs1057517434
SNPdbers1057517434
MSV3drs1057517434
GWAS Ctlgrs1057517434
Max Magnitude0
ClinVar
Risk rs1057517434(-;-)
Alt rs1057517434(-;-)
Reference Rs1057517434(TC;TC)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87738876_87738877delGA
CLNSRC
CLNACC RCV000411501.1,