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rs120074186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074186(C;C)
Make rs120074186(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572979
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074186
ClinGenrs120074186
ebirs120074186
HLIrs120074186
Exacrs120074186
Varsomers120074186
Maprs120074186
PheGenIrs120074186
hapmaprs120074186
1000 genomesrs120074186
hgdprs120074186
ensemblrs120074186
gopubmedrs120074186
geneviewrs120074186
scholarrs120074186
googlers120074186
pharmgkbrs120074186
gwascentralrs120074186
openSNPrs120074186
23andMers120074186
23andMe allrs120074186
SNP Nexus

SNPshotrs120074186
SNPdbers120074186
MSV3drs120074186
GWAS Ctlgrs120074186
Max Magnitude0
OMIM607542
Desc
Variant0016
Relatedalso
ClinVar
Risk rs120074186(A;A) rs120074186(C;C) rs120074186(T;T)
Alt rs120074186(A;A) rs120074186(C;C) rs120074186(T;T)
Reference Rs120074186(G;G)
Significance Pathogenic
Disease Long QT syndrome not provided Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome not provided Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594209G>A; NC_000011.9:g.2594209G>C; NC_000011.9:g.2594209G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000046150.3, RCV000254708.1, RCV000003275.2, RCV000057796.3, RCV000182130.1, RCV000182131.2,


[PMID 9781056] Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


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


[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.