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rs199472716

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472716(C;C)
Make rs199472716(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572081
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472716
ebirs199472716
HLIrs199472716
Exacrs199472716
Varsomers199472716
Maprs199472716
PheGenIrs199472716
hapmaprs199472716
1000 genomesrs199472716
hgdprs199472716
ensemblrs199472716
gopubmedrs199472716
geneviewrs199472716
scholarrs199472716
googlers199472716
pharmgkbrs199472716
gwascentralrs199472716
openSNPrs199472716
23andMers199472716
23andMe allrs199472716
SNP Nexus

SNPshotrs199472716
SNPdbers199472716
MSV3drs199472716
GWAS Ctlgrs199472716
Max Magnitude0
ClinVar
Risk rs199472716(C;C)
Alt rs199472716(C;C)
Reference rs199472716(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.2593311T>C
CLNSRC ClinVar
CLNACC RCV000046117.2, RCV000057748.2, RCV000182106.1,