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rs1057516782

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516782(-;A)
Make rs1057516782(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position86739702
GeneCNGB3
is asnp
is mentioned by
dbSNPrs1057516782
dbSNP (old)rs1057516782
ClinGenrs1057516782
ebirs1057516782
HLIrs1057516782
Exacrs1057516782
Gnomadrs1057516782
Varsomers1057516782
Maprs1057516782
PheGenIrs1057516782
Biobankrs1057516782
1000 genomesrs1057516782
hgdprs1057516782
ensemblrs1057516782
gopubmedrs1057516782
geneviewrs1057516782
scholarrs1057516782
googlers1057516782
pharmgkbrs1057516782
gwascentralrs1057516782
openSNPrs1057516782
23andMers1057516782
23andMe allrs1057516782
SNPshotrs1057516782
SNPdbers1057516782
MSV3drs1057516782
GWAS Ctlgrs1057516782
Max Magnitude0
ClinVar
Risk rs1057516782(A;A)
Alt rs1057516782(A;A)
Reference Rs1057516782(-;-)
Significance Probable-Pathogenic
Disease Achromatopsia 3
Variation info
Gene CNGB3
CLNDBN Achromatopsia 3
Reversed 1
HGVS NC_000008.10:g.87751931dupT
CLNSRC
CLNACC RCV000409138.1,