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rs120074188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074188(A;A)
Make rs120074188(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2768902
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074188
ebirs120074188
HLIrs120074188
Exacrs120074188
Varsomers120074188
Maprs120074188
PheGenIrs120074188
hapmaprs120074188
1000 genomesrs120074188
hgdprs120074188
ensemblrs120074188
gopubmedrs120074188
geneviewrs120074188
scholarrs120074188
googlers120074188
pharmgkbrs120074188
gwascentralrs120074188
openSNPrs120074188
23andMers120074188
23andMe allrs120074188
SNP Nexus

SNPshotrs120074188
SNPdbers120074188
MSV3drs120074188
GWAS Ctlgrs120074188
Max Magnitude0
OMIM607542
Desc
Variant0021
Relatedalso
ClinVar
Risk rs120074188(A;A)
Alt rs120074188(A;A)
Reference rs120074188(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, recessive Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2790132G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003280.3, RCV000046001.2, RCV000057600.2, RCV000182202.1,


[PMID 10482963] Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

[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.

[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.