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rs146664754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs146664754(C;C)
Make rs146664754(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position115732940
GeneCASQ2
is asnp
is mentioned by
dbSNPrs146664754
dbSNP (classic)rs146664754
ClinGenrs146664754
ebirs146664754
HLIrs146664754
Exacrs146664754
Gnomadrs146664754
Varsomers146664754
LitVarrs146664754
Maprs146664754
PheGenIrs146664754
Biobankrs146664754
1000 genomesrs146664754
hgdprs146664754
ensemblrs146664754
geneviewrs146664754
scholarrs146664754
googlers146664754
pharmgkbrs146664754
gwascentralrs146664754
openSNPrs146664754
23andMers146664754
SNPshotrs146664754
SNPdbers146664754
MSV3drs146664754
GWAS Ctlgrs146664754
Max Magnitude0
ClinVar
Risk rs146664754(C;C)
Alt rs146664754(C;C)
Reference Rs146664754(G;G)
Significance Probable-Pathogenic
Disease not specified Ventricular tachycardia Ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN not specified Ventricular tachycardia, polymorphic Ventricular tachycardia, catecholaminergic polymorphic, 2 Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.116275561G>C
CLNSRC
CLNACC RCV000150224.2, RCV000171562.1, RCV000415704.1, RCV000471177.1,