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rs398124650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124650(C;C)
Make rs398124650(C;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position47161744
GeneCALM2
is asnp
is mentioned by
dbSNPrs398124650
dbSNP (classic)rs398124650
ClinGenrs398124650
ebirs398124650
HLIrs398124650
Exacrs398124650
Gnomadrs398124650
Varsomers398124650
LitVarrs398124650
Maprs398124650
PheGenIrs398124650
Biobankrs398124650
1000 genomesrs398124650
hgdprs398124650
ensemblrs398124650
geneviewrs398124650
scholarrs398124650
googlers398124650
pharmgkbrs398124650
gwascentralrs398124650
openSNPrs398124650
23andMers398124650
SNPshotrs398124650
SNPdbers398124650
MSV3drs398124650
GWAS Ctlgrs398124650
Max Magnitude0
ClinVar
Risk rs398124650(C;C)
Alt rs398124650(C;C)
Reference Rs398124650(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome 15
Variation info
Gene CALM2
CLNDBN Long QT syndrome 1 Long QT syndrome 15
Reversed 1
HGVS NC_000002.11:g.47388883C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000143839.1, RCV000162066.3,