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rs199472721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472721(C;C)
Make rs199472721(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572848
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472721
ebirs199472721
HLIrs199472721
Exacrs199472721
Varsomers199472721
Maprs199472721
PheGenIrs199472721
hapmaprs199472721
1000 genomesrs199472721
hgdprs199472721
ensemblrs199472721
gopubmedrs199472721
geneviewrs199472721
scholarrs199472721
googlers199472721
pharmgkbrs199472721
gwascentralrs199472721
openSNPrs199472721
23andMers199472721
23andMe allrs199472721
SNP Nexus

SNPshotrs199472721
SNPdbers199472721
MSV3drs199472721
GWAS Ctlgrs199472721
Max Magnitude0
ClinVar
Risk rs199472721(C;C)
Alt rs199472721(C;C)
Reference rs199472721(G;G)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594078G>C
CLNSRC ClinVar
CLNACC RCV000046127.2, RCV000057760.2,


[PMID 10704188] Jervell and Lange-Nielsen syndrome: a Norwegian perspective.


[PMID 11530100] A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.


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


[PMID 18752142] Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.