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rs199472751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472751(A;A)
Make rs199472751(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2583462
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472751
ebirs199472751
HLIrs199472751
Exacrs199472751
Varsomers199472751
Maprs199472751
PheGenIrs199472751
hapmaprs199472751
1000 genomesrs199472751
hgdprs199472751
ensemblrs199472751
gopubmedrs199472751
geneviewrs199472751
scholarrs199472751
googlers199472751
pharmgkbrs199472751
gwascentralrs199472751
openSNPrs199472751
23andMers199472751
23andMe allrs199472751
SNP Nexus

SNPshotrs199472751
SNPdbers199472751
MSV3drs199472751
GWAS Ctlgrs199472751
Max Magnitude0
ClinVar
Risk rs199472751(A,T;A,T)
Alt rs199472751(A,T;A,T)
Reference rs199472751(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2604692G>A; NC_000011.9:g.2604692G>T
CLNSRC ClinVar
CLNACC RCV000046177.2, RCV000057822.2, RCV000182310.1, RCV000057823.2,


[PMID 9302275] Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.


[PMID 9482580] Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.


[PMID 12702160OA-icon.png] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.


[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.