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rs1060502164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502164(A;G)
Make rs1060502164(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position115744914
GeneCASQ2
is asnp
is mentioned by
dbSNPrs1060502164
dbSNP (classic)rs1060502164
ClinGenrs1060502164
ebirs1060502164
HLIrs1060502164
Exacrs1060502164
Gnomadrs1060502164
Varsomers1060502164
LitVarrs1060502164
Maprs1060502164
PheGenIrs1060502164
Biobankrs1060502164
1000 genomesrs1060502164
hgdprs1060502164
ensemblrs1060502164
geneviewrs1060502164
scholarrs1060502164
googlers1060502164
pharmgkbrs1060502164
gwascentralrs1060502164
openSNPrs1060502164
23andMers1060502164
23andMe allrs1060502164
SNPshotrs1060502164
SNPdbers1060502164
MSV3drs1060502164
GWAS Ctlgrs1060502164
Max Magnitude0
ClinVar
Risk rs1060502164(G;G)
Alt rs1060502164(G;G)
Reference Rs1060502164(A;A)
Significance Probable-Pathogenic
Disease Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Catecholaminergic polymorphic ventricular tachycardia
Reversed 1
HGVS NC_000001.10:g.116287535T>C
CLNSRC
CLNACC RCV000468715.1,