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rs120074185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074185(C;T)
Make rs120074185(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2776032
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074185
ebirs120074185
HLIrs120074185
Exacrs120074185
Varsomers120074185
Maprs120074185
PheGenIrs120074185
hapmaprs120074185
1000 genomesrs120074185
hgdprs120074185
ensemblrs120074185
gopubmedrs120074185
geneviewrs120074185
scholarrs120074185
googlers120074185
pharmgkbrs120074185
gwascentralrs120074185
openSNPrs120074185
23andMers120074185
23andMe allrs120074185
SNP Nexus

SNPshotrs120074185
SNPdbers120074185
MSV3drs120074185
GWAS Ctlgrs120074185
Max Magnitude0
OMIM607542
Desc
Variant0015
Relatedalso
ClinVar
Risk rs120074185(A,T;A,T)
Alt rs120074185(A,T;A,T)
Reference rs120074185(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2797262C>A; NC_000011.9:g.2797262C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000057612.2, RCV000003274.2, RCV000046011.3, RCV000057613.2, RCV000182211.2,


[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.


[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.


[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 18174212OA-icon.png] Kv7.1 (KCNQ1) properties and channelopathies.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.