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rs199473479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473479(G;G)
Make rs199473479(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2768888
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473479
ebirs199473479
HLIrs199473479
Exacrs199473479
Varsomers199473479
Maprs199473479
PheGenIrs199473479
hapmaprs199473479
1000 genomesrs199473479
hgdprs199473479
ensemblrs199473479
gopubmedrs199473479
geneviewrs199473479
scholarrs199473479
googlers199473479
pharmgkbrs199473479
gwascentralrs199473479
openSNPrs199473479
23andMers199473479
23andMe allrs199473479
SNP Nexus

SNPshotrs199473479
SNPdbers199473479
MSV3drs199473479
GWAS Ctlgrs199473479
Max Magnitude0
ClinVar
Risk rs199473479(G;G)
Alt rs199473479(G;G)
Reference rs199473479(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2790118T>G
CLNSRC ClinVar
CLNACC RCV000045999.2, RCV000057597.2, RCV000182199.2,


[PMID 17482572] The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.


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