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rs199472815

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472815(A;A)
Make rs199472815(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2778024
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472815
ebirs199472815
HLIrs199472815
Exacrs199472815
Varsomers199472815
Maprs199472815
PheGenIrs199472815
hapmaprs199472815
1000 genomesrs199472815
hgdprs199472815
ensemblrs199472815
gopubmedrs199472815
geneviewrs199472815
scholarrs199472815
googlers199472815
pharmgkbrs199472815
gwascentralrs199472815
openSNPrs199472815
23andMers199472815
23andMe allrs199472815
SNP Nexus

SNPshotrs199472815
SNPdbers199472815
MSV3drs199472815
GWAS Ctlgrs199472815
Max Magnitude0
ClinVar
Risk rs199472815(A,C;A,C)
Alt rs199472815(A,C;A,C)
Reference rs199472815(G;G)
Significance Other
Disease Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2799254G>A; NC_000011.9:g.2799254G>C
CLNSRC ClinVar
CLNACC RCV000046031.4, RCV000057637.2, RCV000182228.2, RCV000046032.2, RCV000057638.2, RCV000182324.2,


[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.


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


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


[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.


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


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.


[PMID 17224687] Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.


[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.