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rs730882253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882253(C;C)
Make rs730882253(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position90403951
GeneCALM1
is asnp
is mentioned by
dbSNPrs730882253
dbSNP (classic)rs730882253
ClinGenrs730882253
ebirs730882253
HLIrs730882253
Exacrs730882253
Gnomadrs730882253
Varsomers730882253
LitVarrs730882253
Maprs730882253
PheGenIrs730882253
Biobankrs730882253
1000 genomesrs730882253
hgdprs730882253
ensemblrs730882253
geneviewrs730882253
scholarrs730882253
googlers730882253
pharmgkbrs730882253
gwascentralrs730882253
openSNPrs730882253
23andMers730882253
SNPshotrs730882253
SNPdbers730882253
MSV3drs730882253
GWAS Ctlgrs730882253
Max Magnitude0
ClinVar
Risk rs730882253(C;C)
Alt rs730882253(C;C)
Reference Rs730882253(T;T)
Significance Pathogenic
Disease Long QT syndrome 14
Variation info
Gene CALM1
CLNDBN Long QT syndrome 14
Reversed 0
HGVS NC_000014.8:g.90870295T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162064.3,