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rs199472698

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472698(A;A)
Make rs199472698(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570725
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472698
ebirs199472698
HLIrs199472698
Exacrs199472698
Varsomers199472698
Maprs199472698
PheGenIrs199472698
hapmaprs199472698
1000 genomesrs199472698
hgdprs199472698
ensemblrs199472698
gopubmedrs199472698
geneviewrs199472698
scholarrs199472698
googlers199472698
pharmgkbrs199472698
gwascentralrs199472698
openSNPrs199472698
23andMers199472698
23andMe allrs199472698
SNP Nexus

SNPshotrs199472698
SNPdbers199472698
MSV3drs199472698
GWAS Ctlgrs199472698
Max Magnitude0
ClinVar
Risk rs199472698(A,C;A,C)
Alt rs199472698(A,C;A,C)
Reference rs199472698(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2591955G>A; NC_000011.9:g.2591955G>C
CLNSRC ClinVar
CLNACC RCV000057709.2, RCV000182300.1, RCV000046092.2, RCV000057710.2,