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rs199939582

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199939582(A;A)
Make rs199939582(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position115738350
GeneCASQ2
is asnp
is mentioned by
dbSNPrs199939582
dbSNP (classic)rs199939582
ClinGenrs199939582
ebirs199939582
HLIrs199939582
Exacrs199939582
Gnomadrs199939582
Varsomers199939582
LitVarrs199939582
Maprs199939582
PheGenIrs199939582
Biobankrs199939582
1000 genomesrs199939582
hgdprs199939582
ensemblrs199939582
geneviewrs199939582
scholarrs199939582
googlers199939582
pharmgkbrs199939582
gwascentralrs199939582
openSNPrs199939582
23andMers199939582
SNPshotrs199939582
SNPdbers199939582
MSV3drs199939582
GWAS Ctlgrs199939582
Max Magnitude0
ClinVar
Risk rs199939582(A;A) rs199939582(C;C)
Alt rs199939582(A;A) rs199939582(C;C)
Reference Rs199939582(G;G)
Significance Other
Disease not specified Catecholaminergic polymorphic ventricular tachycardia
Variation info
Gene CASQ2
CLNDBN not specified Catecholaminergic polymorphic ventricular tachycardia
Reversed 0
HGVS NC_000001.10:g.116280971G>A; NC_000001.10:g.116280971G>C
CLNSRC
CLNACC RCV000037142.3, RCV000037141.3, RCV000260116.1,