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rs199473400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473400(A;A)
Make rs199473400(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position2570716
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473400
ebirs199473400
HLIrs199473400
Exacrs199473400
Varsomers199473400
Maprs199473400
PheGenIrs199473400
hapmaprs199473400
1000 genomesrs199473400
hgdprs199473400
ensemblrs199473400
gopubmedrs199473400
geneviewrs199473400
scholarrs199473400
googlers199473400
pharmgkbrs199473400
gwascentralrs199473400
openSNPrs199473400
23andMers199473400
23andMe allrs199473400
SNP Nexus

SNPshotrs199473400
SNPdbers199473400
MSV3drs199473400
GWAS Ctlgrs199473400
Max Magnitude0
ClinVar
Risk rs199473400(A;A)
Alt rs199473400(A;A)
Reference rs199473400(G;G)
Significance Probable-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.2591946G>A
CLNSRC ClinVar
CLNACC RCV000046084.2, RCV000057704.2,