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rs199473448

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473448(C;C)
Make rs199473448(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445439
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473448
ebirs199473448
HLIrs199473448
Exacrs199473448
Varsomers199473448
Maprs199473448
PheGenIrs199473448
hapmaprs199473448
1000 genomesrs199473448
hgdprs199473448
ensemblrs199473448
gopubmedrs199473448
geneviewrs199473448
scholarrs199473448
googlers199473448
pharmgkbrs199473448
gwascentralrs199473448
openSNPrs199473448
23andMers199473448
23andMe allrs199473448
SNP Nexus

SNPshotrs199473448
SNPdbers199473448
MSV3drs199473448
GWAS Ctlgrs199473448
Max Magnitude0
ClinVar
Risk rs199473448(C;C)
Alt rs199473448(C;C)
Reference rs199473448(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.2466669T>C
CLNSRC ClinVar
CLNACC RCV000046049.2, RCV000057660.2,