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rs199473397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473397(A;C)
Make rs199473397(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570701
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473397
ebirs199473397
HLIrs199473397
Exacrs199473397
Varsomers199473397
Maprs199473397
PheGenIrs199473397
hapmaprs199473397
1000 genomesrs199473397
hgdprs199473397
ensemblrs199473397
gopubmedrs199473397
geneviewrs199473397
scholarrs199473397
googlers199473397
pharmgkbrs199473397
gwascentralrs199473397
openSNPrs199473397
23andMers199473397
23andMe allrs199473397
SNP Nexus

SNPshotrs199473397
SNPdbers199473397
MSV3drs199473397
GWAS Ctlgrs199473397
Max Magnitude0
ClinVar
Risk rs199473397(C;C)
Alt rs199473397(C;C)
Reference rs199473397(A;A)
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.2591931A>C
CLNSRC ClinVar
CLNACC RCV000046079.2, RCV000057698.2,