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rs398124647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398124647(A;T)
Make rs398124647(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position47161851
GeneCALM2
is asnp
is mentioned by
dbSNPrs398124647
ebirs398124647
HLIrs398124647
Exacrs398124647
Varsomers398124647
Maprs398124647
PheGenIrs398124647
hapmaprs398124647
1000 genomesrs398124647
hgdprs398124647
ensemblrs398124647
gopubmedrs398124647
geneviewrs398124647
scholarrs398124647
googlers398124647
pharmgkbrs398124647
gwascentralrs398124647
openSNPrs398124647
23andMers398124647
23andMe allrs398124647
SNP Nexus

SNPshotrs398124647
SNPdbers398124647
MSV3drs398124647
GWAS Ctlgrs398124647
Max Magnitude0
ClinVar
Risk rs398124647(G,T;G,T)
Alt rs398124647(G,T;G,T)
Reference rs398124647(A;A)
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.47388990T>A; NC_000002.11:g.47388990T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000143837.1, RCV000162068.2, RCV000143836.1, RCV000162067.2,