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rs120074189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074189(C;T)
Make rs120074189(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2778003
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074189
ebirs120074189
HLIrs120074189
Exacrs120074189
Varsomers120074189
Maprs120074189
PheGenIrs120074189
hapmaprs120074189
1000 genomesrs120074189
hgdprs120074189
ensemblrs120074189
gopubmedrs120074189
geneviewrs120074189
scholarrs120074189
googlers120074189
pharmgkbrs120074189
gwascentralrs120074189
openSNPrs120074189
23andMers120074189
23andMe allrs120074189
SNP Nexus

SNPshotrs120074189
SNPdbers120074189
MSV3drs120074189
GWAS Ctlgrs120074189
Max Magnitude0
OMIM607542
Desc
Variant0027
Relatedalso
ClinVar
Risk rs120074189(T;T)
Alt rs120074189(T;T)
Reference rs120074189(C;C)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2799233C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003286.4, RCV000046026.3, RCV000057632.2, RCV000182221.2,


[PMID 173292OA-icon.png] Oxidase-peroxidase enzymes of Datura innoxia. Oxidation of reduced nicotinamide-adenine dinucleotide in the presence of formylphenylacetic acid ethyl ester.


[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.


[PMID 10024302] Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.


[PMID 11162126] Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.


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


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