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rs2228645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2228645(C;T)
Make rs2228645(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position18539442
GeneCACNB2, NSUN6
is asnp
is mentioned by
dbSNPrs2228645
dbSNP (classic)rs2228645
ClinGenrs2228645
ebirs2228645
HLIrs2228645
Exacrs2228645
Gnomadrs2228645
Varsomers2228645
LitVarrs2228645
Maprs2228645
PheGenIrs2228645
Biobankrs2228645
1000 genomesrs2228645
hgdprs2228645
ensemblrs2228645
geneviewrs2228645
scholarrs2228645
googlers2228645
pharmgkbrs2228645
gwascentralrs2228645
openSNPrs2228645
23andMers2228645
SNPshotrs2228645
SNPdbers2228645
MSV3drs2228645
GWAS Ctlgrs2228645
GMAF0.2172
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 23744328] [Association between CACNB2 gene polymorphisms and essential hypertension]


ClinVar
Risk rs2228645(A;A) rs2228645(T;T)
Alt rs2228645(A;A) rs2228645(T;T)
Reference Rs2228645(C;C)
Significance Probable-non-pathogenic
Disease Cardiovascular phenotype not specified Brugada syndrome
Variation info
Gene CACNB2
CLNDBN Cardiovascular phenotype not specified Brugada syndrome
Reversed 0
HGVS NC_000010.10:g.18828371C>T
CLNSRC
CLNACC RCV000250713.1, RCV000253602.1, RCV000272242.1,