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rs120074194

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074194(A;A)
Make rs120074194(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572871
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074194
ebirs120074194
HLIrs120074194
Exacrs120074194
Varsomers120074194
Maprs120074194
PheGenIrs120074194
hapmaprs120074194
1000 genomesrs120074194
hgdprs120074194
ensemblrs120074194
gopubmedrs120074194
geneviewrs120074194
scholarrs120074194
googlers120074194
pharmgkbrs120074194
gwascentralrs120074194
openSNPrs120074194
23andMers120074194
23andMe allrs120074194
SNP Nexus

SNPshotrs120074194
SNPdbers120074194
MSV3drs120074194
GWAS Ctlgrs120074194
Max Magnitude0
OMIM607542
Desc
Variant0034
Relatedalso
ClinVar
Risk rs120074194(A,T;A,T)
Alt rs120074194(A,T;A,T)
Reference rs120074194(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2594101G>A; NC_000011.9:g.2594101G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003295.2, RCV000046133.3, RCV000057766.2, RCV000182119.2, RCV000182307.1,


[PMID 158404] Vasoactive intestinal polypeptide (VIP): distribution in normal human brain and in Huntington's disease.

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

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

[PMID 12051962] Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.