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

rs199473447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473447(A;T)
Make rs199473447(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2445412
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473447
ebirs199473447
HLIrs199473447
Exacrs199473447
Varsomers199473447
Maprs199473447
PheGenIrs199473447
hapmaprs199473447
1000 genomesrs199473447
hgdprs199473447
ensemblrs199473447
gopubmedrs199473447
geneviewrs199473447
scholarrs199473447
googlers199473447
pharmgkbrs199473447
gwascentralrs199473447
openSNPrs199473447
23andMers199473447
23andMe allrs199473447
SNP Nexus

SNPshotrs199473447
SNPdbers199473447
MSV3drs199473447
GWAS Ctlgrs199473447
Max Magnitude0
ClinVar
Risk rs199473447(T;T)
Alt rs199473447(T;T)
Reference rs199473447(A;A)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466642A>T
CLNSRC ClinVar
CLNACC RCV000057657.2,