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rs199473361

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473361(C;C)
Make rs199473361(C;T)
ReferenceGRCh38 38.1/142
Chromosome21
Position34449376
GeneKCNE1
is asnp
is mentioned by
dbSNPrs199473361
ebirs199473361
HLIrs199473361
Exacrs199473361
Varsomers199473361
Maprs199473361
PheGenIrs199473361
hapmaprs199473361
1000 genomesrs199473361
hgdprs199473361
ensemblrs199473361
gopubmedrs199473361
geneviewrs199473361
scholarrs199473361
googlers199473361
pharmgkbrs199473361
gwascentralrs199473361
openSNPrs199473361
23andMers199473361
23andMe allrs199473361
SNP Nexus

SNPshotrs199473361
SNPdbers199473361
MSV3drs199473361
GWAS Ctlgrs199473361
Max Magnitude0
ClinVar
Risk rs199473361(C;C)
Alt rs199473361(C;C)
Reference rs199473361(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821674A>G
CLNSRC ClinVar
CLNACC RCV000119087.1,