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rs199472677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472677(A;A)
Make rs199472677(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2445426
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472677
ebirs199472677
HLIrs199472677
Exacrs199472677
Varsomers199472677
Maprs199472677
PheGenIrs199472677
hapmaprs199472677
1000 genomesrs199472677
hgdprs199472677
ensemblrs199472677
gopubmedrs199472677
geneviewrs199472677
scholarrs199472677
googlers199472677
pharmgkbrs199472677
gwascentralrs199472677
openSNPrs199472677
23andMers199472677
23andMe allrs199472677
SNP Nexus

SNPshotrs199472677
SNPdbers199472677
MSV3drs199472677
GWAS Ctlgrs199472677
Max Magnitude0
ClinVar
Risk rs199472677(A;A)
Alt rs199472677(A;A)
Reference rs199472677(G;G)
Significance Other
Disease Long QT syndrome not provided not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome not provided not specified
Reversed 0
HGVS NC_000011.9:g.2466656G>A
CLNSRC ClinVar
CLNACC RCV000046047.3, RCV000057658.3, RCV000182259.2,


[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.


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


[PMID 21164565OA-icon.png] Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.