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rs199472704

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472704(C;T)
Make rs199472704(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2571346
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472704
ebirs199472704
HLIrs199472704
Exacrs199472704
Varsomers199472704
Maprs199472704
PheGenIrs199472704
hapmaprs199472704
1000 genomesrs199472704
hgdprs199472704
ensemblrs199472704
gopubmedrs199472704
geneviewrs199472704
scholarrs199472704
googlers199472704
pharmgkbrs199472704
gwascentralrs199472704
openSNPrs199472704
23andMers199472704
23andMe allrs199472704
SNP Nexus

SNPshotrs199472704
SNPdbers199472704
MSV3drs199472704
GWAS Ctlgrs199472704
Max Magnitude0
ClinVar
Risk rs199472704(T;T)
Alt rs199472704(T;T)
Reference rs199472704(C;C)
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.2592576C>T
CLNSRC ClinVar
CLNACC RCV000046100.2, RCV000057726.2,