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rs120074183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074183(A;A)
Make rs120074183(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2585213
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074183
ebirs120074183
HLIrs120074183
Exacrs120074183
Varsomers120074183
Maprs120074183
PheGenIrs120074183
hapmaprs120074183
1000 genomesrs120074183
hgdprs120074183
ensemblrs120074183
gopubmedrs120074183
geneviewrs120074183
scholarrs120074183
googlers120074183
pharmgkbrs120074183
gwascentralrs120074183
openSNPrs120074183
23andMers120074183
23andMe allrs120074183
SNP Nexus

SNPshotrs120074183
SNPdbers120074183
MSV3drs120074183
GWAS Ctlgrs120074183
Max Magnitude0
OMIM607542
Desc
Variant0011
Relatedalso
ClinVar
Risk rs120074183(A;A)
Alt rs120074183(A;A)
Reference rs120074183(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2606443G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003270.2, RCV000045944.2, RCV000057536.2,


[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.


[PMID 10376919] Functional effects of mutations in KvLQT1 that cause long QT syndrome.


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