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rs199472819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472819(A;A)
Make rs199472819(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2847827
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472819
ebirs199472819
HLIrs199472819
Exacrs199472819
Varsomers199472819
Maprs199472819
PheGenIrs199472819
hapmaprs199472819
1000 genomesrs199472819
hgdprs199472819
ensemblrs199472819
gopubmedrs199472819
geneviewrs199472819
scholarrs199472819
googlers199472819
pharmgkbrs199472819
gwascentralrs199472819
openSNPrs199472819
23andMers199472819
23andMe allrs199472819
SNP Nexus

SNPshotrs199472819
SNPdbers199472819
MSV3drs199472819
GWAS Ctlgrs199472819
Max Magnitude0
ClinVar
Risk rs199472819(A;A)
Alt rs199472819(A;A)
Reference rs199472819(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2869057T>A
CLNSRC ClinVar
CLNACC RCV000046034.2, RCV000057645.2,