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rs121917812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917812(C;T)
Make rs121917812(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position18539345
GeneCACNB2, NSUN6
is asnp
is mentioned by
dbSNPrs121917812
dbSNP (classic)rs121917812
ClinGenrs121917812
ebirs121917812
HLIrs121917812
Exacrs121917812
Gnomadrs121917812
Varsomers121917812
LitVarrs121917812
Maprs121917812
PheGenIrs121917812
Biobankrs121917812
1000 genomesrs121917812
hgdprs121917812
ensemblrs121917812
geneviewrs121917812
scholarrs121917812
googlers121917812
pharmgkbrs121917812
gwascentralrs121917812
openSNPrs121917812
23andMers121917812
SNPshotrs121917812
SNPdbers121917812
MSV3drs121917812
GWAS Ctlgrs121917812
Max Magnitude0
ClinVar
Risk rs121917812(T;T)
Alt rs121917812(T;T)
Reference Rs121917812(C;C)
Significance Pathogenic
Disease Brugada syndrome 4
Variation info
Gene CACNB2
CLNDBN Brugada syndrome 4
Reversed 0
HGVS NC_000010.10:g.18828274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010155.3,