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rs199472688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472688(A;A)
Make rs199472688(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527977
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472688
ebirs199472688
HLIrs199472688
Exacrs199472688
Varsomers199472688
Maprs199472688
PheGenIrs199472688
hapmaprs199472688
1000 genomesrs199472688
hgdprs199472688
ensemblrs199472688
gopubmedrs199472688
geneviewrs199472688
scholarrs199472688
googlers199472688
pharmgkbrs199472688
gwascentralrs199472688
openSNPrs199472688
23andMers199472688
23andMe allrs199472688
SNP Nexus

SNPshotrs199472688
SNPdbers199472688
MSV3drs199472688
GWAS Ctlgrs199472688
Max Magnitude0
ClinVar
Risk rs199472688(A;A)
Alt rs199472688(A;A)
Reference rs199472688(G;G)
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.2549207G>A
CLNSRC ClinVar
CLNACC RCV000046057.2, RCV000057676.2,