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rs199472681

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472681(A;A)
Make rs199472681(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445463
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472681
ebirs199472681
HLIrs199472681
Exacrs199472681
Varsomers199472681
Maprs199472681
PheGenIrs199472681
hapmaprs199472681
1000 genomesrs199472681
hgdprs199472681
ensemblrs199472681
gopubmedrs199472681
geneviewrs199472681
scholarrs199472681
googlers199472681
pharmgkbrs199472681
gwascentralrs199472681
openSNPrs199472681
23andMers199472681
23andMe allrs199472681
SNP Nexus

SNPshotrs199472681
SNPdbers199472681
MSV3drs199472681
GWAS Ctlgrs199472681
Max Magnitude0
ClinVar
Risk rs199472681(A;A)
Alt rs199472681(A;A)
Reference rs199472681(G;G)
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.2466693G>A
CLNSRC ClinVar
CLNACC RCV000046053.2, RCV000057664.2, RCV000182262.1,