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rs16991654

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs16991654(C;C)
Make rs16991654(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370656
GeneKCNE2
is asnp
is mentioned by
dbSNPrs16991654
ebirs16991654
HLIrs16991654
Exacrs16991654
Varsomers16991654
Maprs16991654
PheGenIrs16991654
hapmaprs16991654
1000 genomesrs16991654
hgdprs16991654
ensemblrs16991654
gopubmedrs16991654
geneviewrs16991654
scholarrs16991654
googlers16991654
pharmgkbrs16991654
gwascentralrs16991654
openSNPrs16991654
23andMers16991654
23andMe allrs16991654
SNP Nexus

SNPshotrs16991654
SNPdbers16991654
MSV3drs16991654
GWAS Ctlgrs16991654
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM603796
Desc
Variant0005
Relatedalso
ClinVar
Risk rs16991654(A,C;A,C)
Alt rs16991654(A,C;A,C)
Reference rs16991654(T;T)
Significance Pathogenic
Disease Long qt syndrome 3/6 Congenital long QT syndrome
Variation info
Gene KCNE2
CLNDBN Long qt syndrome 3/6, digenic Congenital long QT syndrome
Reversed 0
HGVS NC_000021.8:g.35742955T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006428.2, RCV000058363.2,


[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.