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rs12720449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs12720449(C;G)
Make rs12720449(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2588804
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs12720449
ebirs12720449
HLIrs12720449
Exacrs12720449
Varsomers12720449
Maprs12720449
PheGenIrs12720449
hapmaprs12720449
1000 genomesrs12720449
hgdprs12720449
ensemblrs12720449
gopubmedrs12720449
geneviewrs12720449
scholarrs12720449
googlers12720449
pharmgkbrs12720449
gwascentralrs12720449
openSNPrs12720449
23andMers12720449
23andMe allrs12720449
SNP Nexus

SNPshotrs12720449
SNPdbers12720449
MSV3drs12720449
GWAS Ctlgrs12720449
GMAF0.02938
Max Magnitude0

[PMID 22479571OA-icon.png] Several Polymorphisms of KCNQ1 Gene Are Associated with Plasma Lipid Levels in General Chinese Populations


ClinVar
Risk rs12720449(A,G,T;A,G,T)
Alt rs12720449(A,G,T;A,G,T)
Reference rs12720449(C;C)
Significance Pathogenic
Disease Long QT syndrome not provided not specified Congenital long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome not provided not specified Congenital long QT syndrome Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2610034C>A; NC_000011.9:g.2610034C>G; NC_000011.9:g.2610034C>T
CLNSRC ClinVar
CLNACC RCV000206878.1, RCV000057578.2, RCV000155365.1, RCV000171758.2, RCV000057579.2, RCV000182185.1,



[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 15242] [Nature of the enzymes participating in the transformation of proinsulin into insulin].


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


[PMID 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.


[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 14731347] [A novel KCNQ1 mutation in Chinese with congenital long QT syndrome].


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


GET Evidence
KCNQ1-P448R
aa_change Pro448Arg
aa_change_short P448R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0234375
summary