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rs199472823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472823(C;C)
Make rs199472823(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2571328
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472823
ebirs199472823
HLIrs199472823
Exacrs199472823
Varsomers199472823
Maprs199472823
PheGenIrs199472823
hapmaprs199472823
1000 genomesrs199472823
hgdprs199472823
ensemblrs199472823
gopubmedrs199472823
geneviewrs199472823
scholarrs199472823
googlers199472823
pharmgkbrs199472823
gwascentralrs199472823
openSNPrs199472823
23andMers199472823
23andMe allrs199472823
SNP Nexus

SNPshotrs199472823
SNPdbers199472823
MSV3drs199472823
GWAS Ctlgrs199472823
Max Magnitude0
ClinVar
Risk rs199472823(C;C)
Alt rs199472823(C;C)
Reference rs199472823(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2592558T>C
CLNSRC ClinVar
CLNACC RCV000057720.2, RCV000182092.1,