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rs199472767

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472767(A;A)
Make rs199472767(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2585300
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472767
ebirs199472767
HLIrs199472767
Exacrs199472767
Varsomers199472767
Maprs199472767
PheGenIrs199472767
hapmaprs199472767
1000 genomesrs199472767
hgdprs199472767
ensemblrs199472767
gopubmedrs199472767
geneviewrs199472767
scholarrs199472767
googlers199472767
pharmgkbrs199472767
gwascentralrs199472767
openSNPrs199472767
23andMers199472767
23andMe allrs199472767
SNP Nexus

SNPshotrs199472767
SNPdbers199472767
MSV3drs199472767
GWAS Ctlgrs199472767
Max Magnitude0
ClinVar
Risk rs199472767(A;A)
Alt rs199472767(A;A)
Reference rs199472767(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not specified
Reversed 0
HGVS NC_000011.9:g.2606530T>A
CLNSRC ClinVar
CLNACC RCV000045965.2, RCV000057558.2, RCV000182175.3,