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rs199472676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472676(A;A)
Make rs199472676(A;C)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445315
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472676
ebirs199472676
HLIrs199472676
Exacrs199472676
Varsomers199472676
Maprs199472676
PheGenIrs199472676
hapmaprs199472676
1000 genomesrs199472676
hgdprs199472676
ensemblrs199472676
gopubmedrs199472676
geneviewrs199472676
scholarrs199472676
googlers199472676
pharmgkbrs199472676
gwascentralrs199472676
openSNPrs199472676
23andMers199472676
23andMe allrs199472676
SNP Nexus

SNPshotrs199472676
SNPdbers199472676
MSV3drs199472676
GWAS Ctlgrs199472676
Max Magnitude0
ClinVar
Risk rs199472676(A;A)
Alt rs199472676(A;A)
Reference rs199472676(C;C)
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.2466545C>A
CLNSRC ClinVar
CLNACC RCV000046044.2, RCV000057655.2,