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rs28933384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs28933384(C;T)
Make rs28933384(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449615
GeneKCNE1
is asnp
is mentioned by
dbSNPrs28933384
ebirs28933384
HLIrs28933384
Exacrs28933384
Varsomers28933384
Maprs28933384
PheGenIrs28933384
hapmaprs28933384
1000 genomesrs28933384
hgdprs28933384
ensemblrs28933384
gopubmedrs28933384
geneviewrs28933384
scholarrs28933384
googlers28933384
pharmgkbrs28933384
gwascentralrs28933384
openSNPrs28933384
23andMers28933384
23andMe allrs28933384
SNP Nexus

SNPshotrs28933384
SNPdbers28933384
MSV3drs28933384
GWAS Ctlgrs28933384
Max Magnitude0
OMIM176261
DescJERVELL AND LANGE-NIELSEN SYNDROME
Variant0002
Relatedalso
Neighborrs17846179
Distance92



ClinVar
Risk rs28933384(T;T)
Alt rs28933384(T;T)
Reference rs28933384(C;C)
Significance Pathogenic
Disease Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNE1
CLNDBN Jervell and Lange-Nielsen syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000021.8:g.35821913G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014418.25, RCV000119076.1,



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