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rs878853394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853394(C;T)
Make rs878853394(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position57964158
GeneCNGB1
is asnp
is mentioned by
dbSNPrs878853394
dbSNP (classic)rs878853394
ClinGenrs878853394
ebirs878853394
HLIrs878853394
Exacrs878853394
Gnomadrs878853394
Varsomers878853394
LitVarrs878853394
Maprs878853394
PheGenIrs878853394
Biobankrs878853394
1000 genomesrs878853394
hgdprs878853394
ensemblrs878853394
geneviewrs878853394
scholarrs878853394
googlers878853394
pharmgkbrs878853394
gwascentralrs878853394
openSNPrs878853394
23andMers878853394
SNPshotrs878853394
SNPdbers878853394
MSV3drs878853394
GWAS Ctlgrs878853394
Max Magnitude0
ClinVar
Risk rs878853394(T;T)
Alt rs878853394(T;T)
Reference Rs878853394(C;C)
Significance Probable-Pathogenic
Disease Retinal dystrophy
Variation info
Gene CNGB1
CLNDBN Retinal dystrophy
Reversed 1
HGVS NC_000016.9:g.57998062G>A
CLNSRC
CLNACC RCV000225584.1,