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rs199472719

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472719(C;T)
Make rs199472719(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572104
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472719
ebirs199472719
HLIrs199472719
Exacrs199472719
Varsomers199472719
Maprs199472719
PheGenIrs199472719
hapmaprs199472719
1000 genomesrs199472719
hgdprs199472719
ensemblrs199472719
gopubmedrs199472719
geneviewrs199472719
scholarrs199472719
googlers199472719
pharmgkbrs199472719
gwascentralrs199472719
openSNPrs199472719
23andMers199472719
23andMe allrs199472719
SNP Nexus

SNPshotrs199472719
SNPdbers199472719
MSV3drs199472719
GWAS Ctlgrs199472719
Max Magnitude0
ClinVar
Risk rs199472719(T;T)
Alt rs199472719(T;T)
Reference rs199472719(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2593334C>T
CLNSRC ClinVar
CLNACC RCV000046123.4, RCV000057755.2, RCV000223916.1,


[PMID 19716] Adenylate cyclase and guanylate cyclase of normal and denervated skeletal muscle.


[PMID 11021476] Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.


[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.


[PMID 12566525OA-icon.png] The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.


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


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.