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rs199473450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473450(C;T)
Make rs199473450(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2527950
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473450
ebirs199473450
HLIrs199473450
Exacrs199473450
Varsomers199473450
Maprs199473450
PheGenIrs199473450
hapmaprs199473450
1000 genomesrs199473450
hgdprs199473450
ensemblrs199473450
gopubmedrs199473450
geneviewrs199473450
scholarrs199473450
googlers199473450
pharmgkbrs199473450
gwascentralrs199473450
openSNPrs199473450
23andMers199473450
23andMe allrs199473450
SNP Nexus

SNPshotrs199473450
SNPdbers199473450
MSV3drs199473450
GWAS Ctlgrs199473450
Max Magnitude0
ClinVar
Risk rs199473450(T;T)
Alt rs199473450(T;T)
Reference rs199473450(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2549180C>T
CLNSRC ClinVar
CLNACC RCV000046056.2, RCV000057671.2, RCV000182252.1,