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rs199472727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472727(G;G)
Make rs199472727(G;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572883
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472727
ebirs199472727
HLIrs199472727
Exacrs199472727
Varsomers199472727
Maprs199472727
PheGenIrs199472727
hapmaprs199472727
1000 genomesrs199472727
hgdprs199472727
ensemblrs199472727
gopubmedrs199472727
geneviewrs199472727
scholarrs199472727
googlers199472727
pharmgkbrs199472727
gwascentralrs199472727
openSNPrs199472727
23andMers199472727
23andMe allrs199472727
SNP Nexus

SNPshotrs199472727
SNPdbers199472727
MSV3drs199472727
GWAS Ctlgrs199472727
Max Magnitude0
ClinVar
Risk rs199472727(G;G)
Alt rs199472727(G;G)
Reference rs199472727(T;T)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2594113T>G
CLNSRC ClinVar
CLNACC RCV000046136.2, RCV000057770.2,