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rs199472749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472749(G;T)
Make rs199472749(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2583460
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472749
ebirs199472749
HLIrs199472749
Exacrs199472749
Varsomers199472749
Maprs199472749
PheGenIrs199472749
hapmaprs199472749
1000 genomesrs199472749
hgdprs199472749
ensemblrs199472749
gopubmedrs199472749
geneviewrs199472749
scholarrs199472749
googlers199472749
pharmgkbrs199472749
gwascentralrs199472749
openSNPrs199472749
23andMers199472749
23andMe allrs199472749
SNP Nexus

SNPshotrs199472749
SNPdbers199472749
MSV3drs199472749
GWAS Ctlgrs199472749
Max Magnitude0
ClinVar
Risk rs199472749(A,T;A,T)
Alt rs199472749(A,T;A,T)
Reference rs199472749(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.2604690G>A; NC_000011.9:g.2604690G>T
CLNSRC ClinVar
CLNACC RCV000046176.2, RCV000057820.2, RCV000057821.2,