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rs199473401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473401(C;C)
Make rs199473401(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570722
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473401
ebirs199473401
HLIrs199473401
Exacrs199473401
Varsomers199473401
Maprs199473401
PheGenIrs199473401
hapmaprs199473401
1000 genomesrs199473401
hgdprs199473401
ensemblrs199473401
gopubmedrs199473401
geneviewrs199473401
scholarrs199473401
googlers199473401
pharmgkbrs199473401
gwascentralrs199473401
openSNPrs199473401
23andMers199473401
23andMe allrs199473401
SNP Nexus

SNPshotrs199473401
SNPdbers199473401
MSV3drs199473401
GWAS Ctlgrs199473401
Max Magnitude0
ClinVar
Risk rs199473401(C;C)
Alt rs199473401(C;C)
Reference rs199473401(T;T)
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.2591952T>C
CLNSRC ClinVar
CLNACC RCV000046089.2, RCV000057708.2,