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

rs199473485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473485(C;C)
Make rs199473485(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2445100
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473485
ebirs199473485
HLIrs199473485
Exacrs199473485
Varsomers199473485
Maprs199473485
PheGenIrs199473485
hapmaprs199473485
1000 genomesrs199473485
hgdprs199473485
ensemblrs199473485
gopubmedrs199473485
geneviewrs199473485
scholarrs199473485
googlers199473485
pharmgkbrs199473485
gwascentralrs199473485
openSNPrs199473485
23andMers199473485
23andMe allrs199473485
SNP Nexus

SNPshotrs199473485
SNPdbers199473485
MSV3drs199473485
GWAS Ctlgrs199473485
Max Magnitude0
ClinVar
Risk rs199473485(C;C)
Alt rs199473485(C;C)
Reference rs199473485(T;T)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466330T>C
CLNSRC ClinVar
CLNACC RCV000046046.2, RCV000057656.2,


[PMID 21380488] Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.