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rs730882254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882254(A;T)
Make rs730882254(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47161857
GeneCALM2
is asnp
is mentioned by
dbSNPrs730882254
dbSNP (classic)rs730882254
ClinGenrs730882254
ebirs730882254
HLIrs730882254
Exacrs730882254
Gnomadrs730882254
Varsomers730882254
LitVarrs730882254
Maprs730882254
PheGenIrs730882254
Biobankrs730882254
1000 genomesrs730882254
hgdprs730882254
ensemblrs730882254
geneviewrs730882254
scholarrs730882254
googlers730882254
pharmgkbrs730882254
gwascentralrs730882254
openSNPrs730882254
23andMers730882254
SNPshotrs730882254
SNPdbers730882254
MSV3drs730882254
GWAS Ctlgrs730882254
Max Magnitude0
ClinVar
Risk rs730882254(T;T)
Alt rs730882254(T;T)
Reference Rs730882254(A;A)
Significance Pathogenic
Disease Long QT syndrome 15
Variation info
Gene CALM2
CLNDBN Long QT syndrome 15
Reversed 1
HGVS NC_000002.11:g.47388996T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162065.3,