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rs199472760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472760(C;T)
Make rs199472760(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583537
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472760
ebirs199472760
HLIrs199472760
Exacrs199472760
Varsomers199472760
Maprs199472760
PheGenIrs199472760
hapmaprs199472760
1000 genomesrs199472760
hgdprs199472760
ensemblrs199472760
gopubmedrs199472760
geneviewrs199472760
scholarrs199472760
googlers199472760
pharmgkbrs199472760
gwascentralrs199472760
openSNPrs199472760
23andMers199472760
23andMe allrs199472760
SNP Nexus

SNPshotrs199472760
SNPdbers199472760
MSV3drs199472760
GWAS Ctlgrs199472760
Max Magnitude0
ClinVar
Risk rs199472760(T;T)
Alt rs199472760(T;T)
Reference rs199472760(C;C)
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.2604767C>T
CLNSRC ClinVar
CLNACC RCV000045934.2, RCV000057529.2, RCV000182312.1,