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rs199472695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472695(A;A)
Make rs199472695(A;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570668
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472695
ebirs199472695
HLIrs199472695
Exacrs199472695
Varsomers199472695
Maprs199472695
PheGenIrs199472695
hapmaprs199472695
1000 genomesrs199472695
hgdprs199472695
ensemblrs199472695
gopubmedrs199472695
geneviewrs199472695
scholarrs199472695
googlers199472695
pharmgkbrs199472695
gwascentralrs199472695
openSNPrs199472695
23andMers199472695
23andMe allrs199472695
SNP Nexus

SNPshotrs199472695
SNPdbers199472695
MSV3drs199472695
GWAS Ctlgrs199472695
Max Magnitude0
ClinVar
Risk rs199472695(A;A)
Alt rs199472695(A;A)
Reference rs199472695(T;T)
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.2591898T>A
CLNSRC ClinVar
CLNACC RCV000046071.2, RCV000057688.2,