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rs199472730

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472730(C;G)
Make rs199472730(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572895
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472730
ebirs199472730
HLIrs199472730
Exacrs199472730
Varsomers199472730
Maprs199472730
PheGenIrs199472730
hapmaprs199472730
1000 genomesrs199472730
hgdprs199472730
ensemblrs199472730
gopubmedrs199472730
geneviewrs199472730
scholarrs199472730
googlers199472730
pharmgkbrs199472730
gwascentralrs199472730
openSNPrs199472730
23andMers199472730
23andMe allrs199472730
SNP Nexus

SNPshotrs199472730
SNPdbers199472730
MSV3drs199472730
GWAS Ctlgrs199472730
Max Magnitude0
ClinVar
Risk rs199472730(G,T;G,T)
Alt rs199472730(G,T;G,T)
Reference rs199472730(C;C)
Significance Other
Disease Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594125C>G; NC_000011.9:g.2594125C>T
CLNSRC ClinVar
CLNACC RCV000046141.2, RCV000057774.2, RCV000182308.1, RCV000046142.3, RCV000057775.2, RCV000182123.2,


[PMID 16414944] Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.


[PMID 21241] A sex difference in the interaction between promethazine and morphine in the mouse.


[PMID 12442276OA-icon.png] KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.


[PMID 15192825] [The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].


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


[PMID 16831322] [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].


[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.