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rs199472684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472684(A;C)
Make rs199472684(C;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527935
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472684
ebirs199472684
HLIrs199472684
Exacrs199472684
Varsomers199472684
Maprs199472684
PheGenIrs199472684
hapmaprs199472684
1000 genomesrs199472684
hgdprs199472684
ensemblrs199472684
gopubmedrs199472684
geneviewrs199472684
scholarrs199472684
googlers199472684
pharmgkbrs199472684
gwascentralrs199472684
openSNPrs199472684
23andMers199472684
23andMe allrs199472684
SNP Nexus

SNPshotrs199472684
SNPdbers199472684
MSV3drs199472684
GWAS Ctlgrs199472684
Max Magnitude0
ClinVar
Risk rs199472684(C;C)
Alt rs199472684(C;C)
Reference rs199472684(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.2549165A>C
CLNSRC ClinVar
CLNACC RCV000046054.2, RCV000057667.2,