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rs199472718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472718(A;C)
Make rs199472718(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572102
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472718
ebirs199472718
HLIrs199472718
Exacrs199472718
Varsomers199472718
Maprs199472718
PheGenIrs199472718
hapmaprs199472718
1000 genomesrs199472718
hgdprs199472718
ensemblrs199472718
gopubmedrs199472718
geneviewrs199472718
scholarrs199472718
googlers199472718
pharmgkbrs199472718
gwascentralrs199472718
openSNPrs199472718
23andMers199472718
23andMe allrs199472718
SNP Nexus

SNPshotrs199472718
SNPdbers199472718
MSV3drs199472718
GWAS Ctlgrs199472718
Max Magnitude0
ClinVar
Risk rs199472718(C,G;C,G)
Alt rs199472718(C,G;C,G)
Reference rs199472718(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Long QT syndrome, LQT1 subtype not provided
Reversed 0
HGVS NC_000011.9:g.2593332A>C; NC_000011.9:g.2593332A>G
CLNSRC ClinVar
CLNACC RCV000057753.2, RCV000046122.2, RCV000057754.2, RCV000182111.1,