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rs12720441

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12720441(C;T)
Make rs12720441(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150950216
GeneKCNH2
is asnp
is mentioned by
dbSNPrs12720441
ebirs12720441
HLIrs12720441
Exacrs12720441
Varsomers12720441
Maprs12720441
PheGenIrs12720441
hapmaprs12720441
1000 genomesrs12720441
hgdprs12720441
ensemblrs12720441
gopubmedrs12720441
geneviewrs12720441
scholarrs12720441
googlers12720441
pharmgkbrs12720441
gwascentralrs12720441
openSNPrs12720441
23andMers12720441
23andMe allrs12720441
SNP Nexus

SNPshotrs12720441
SNPdbers12720441
MSV3drs12720441
GWAS Ctlgrs12720441
StatusDeleted
GMAF0.0004591
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM152427
DescLONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
Variant0014
Relatedalso


ClinVar
Risk rs12720441(G,T;G,T)
Alt rs12720441(G,T;G,T)
Reference rs12720441(C;C)
Significance Other
Disease Long QT syndrome 2 Congenital long QT syndrome Brugada syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2, acquired, susceptibility to Congenital long QT syndrome Brugada syndrome
Reversed 1
HGVS NC_000007.13:g.150647304G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015514.2, RCV000058108.2, RCV000208497.1,


[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.