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rs199472694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472694(A;A)
Make rs199472694(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570664
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472694
ebirs199472694
HLIrs199472694
Exacrs199472694
Varsomers199472694
Maprs199472694
PheGenIrs199472694
hapmaprs199472694
1000 genomesrs199472694
hgdprs199472694
ensemblrs199472694
gopubmedrs199472694
geneviewrs199472694
scholarrs199472694
googlers199472694
pharmgkbrs199472694
gwascentralrs199472694
openSNPrs199472694
23andMers199472694
23andMe allrs199472694
SNP Nexus

SNPshotrs199472694
SNPdbers199472694
MSV3drs199472694
GWAS Ctlgrs199472694
Max Magnitude0
ClinVar
Risk rs199472694(A;A)
Alt rs199472694(A;A)
Reference rs199472694(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2591894G>A
CLNSRC ClinVar
CLNACC RCV000057687.2,