Have questions? Visit https://www.reddit.com/r/SNPedia

rs199473480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473480(C;T)
Make rs199473480(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776006
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473480
ebirs199473480
HLIrs199473480
Exacrs199473480
Varsomers199473480
Maprs199473480
PheGenIrs199473480
hapmaprs199473480
1000 genomesrs199473480
hgdprs199473480
ensemblrs199473480
gopubmedrs199473480
geneviewrs199473480
scholarrs199473480
googlers199473480
pharmgkbrs199473480
gwascentralrs199473480
openSNPrs199473480
23andMers199473480
23andMe allrs199473480
SNP Nexus

SNPshotrs199473480
SNPdbers199473480
MSV3drs199473480
GWAS Ctlgrs199473480
Max Magnitude0
ClinVar
Risk rs199473480(T;T)
Alt rs199473480(T;T)
Reference rs199473480(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2797236C>T
CLNSRC ClinVar
CLNACC RCV000046008.2, RCV000057608.2, RCV000174453.1, RCV000182209.2,