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rs886039816

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886039816(A;G)
Make rs886039816(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position115732968
GeneCASQ2
is asnp
is mentioned by
dbSNPrs886039816
dbSNP (classic)rs886039816
ClinGenrs886039816
ebirs886039816
HLIrs886039816
Exacrs886039816
Gnomadrs886039816
Varsomers886039816
LitVarrs886039816
Maprs886039816
PheGenIrs886039816
Biobankrs886039816
1000 genomesrs886039816
hgdprs886039816
ensemblrs886039816
geneviewrs886039816
scholarrs886039816
googlers886039816
pharmgkbrs886039816
gwascentralrs886039816
openSNPrs886039816
23andMers886039816
SNPshotrs886039816
SNPdbers886039816
MSV3drs886039816
GWAS Ctlgrs886039816
Max Magnitude0
ClinVar
Risk rs886039816(G;G)
Alt rs886039816(G;G)
Reference Rs886039816(A;A)
Significance Pathogenic
Disease Ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN Ventricular tachycardia, catecholaminergic polymorphic, 2
Reversed 1
HGVS NC_000001.10:g.116275589T>C
CLNSRC
CLNACC RCV000256223.1,