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rs2234916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2234916(A;G)
Make rs2234916(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34370500
GeneKCNE2
is asnp
is mentioned by
dbSNPrs2234916
ebirs2234916
HLIrs2234916
Exacrs2234916
Varsomers2234916
Maprs2234916
PheGenIrs2234916
hapmaprs2234916
1000 genomesrs2234916
hgdprs2234916
ensemblrs2234916
gopubmedrs2234916
geneviewrs2234916
scholarrs2234916
googlers2234916
pharmgkbrs2234916
gwascentralrs2234916
openSNPrs2234916
23andMers2234916
23andMe allrs2234916
SNP Nexus

SNPshotrs2234916
SNPdbers2234916
MSV3drs2234916
GWAS Ctlgrs2234916
GMAF0.001837
Max Magnitude0


ClinVar
Risk rs2234916(G;G)
Alt rs2234916(G;G)
Reference rs2234916(A;A)
Significance Non-pathogenic
Disease not provided not specified Long QT syndrome Long QT syndrome 6
Variation info
Gene KCNE2
CLNDBN not provided not specified Long QT syndrome, drug-associated Long QT syndrome 6
Reversed 0
HGVS NC_000021.8:g.35742799A>G
CLNSRC ClinVar GeneDx
CLNACC RCV000058368.4, RCV000170566.2, RCV000171812.2, RCV000198733.2,



[PMID 19019189OA-icon.png] Common candidate gene variants are associated with QT interval duration in the general population.

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

[PMID 15599] Pyrrolo(1,4)benzodiazepine antitumor antibiotics. In vitro interaction of anthramycin, sibiromycin and tomaymycin with DNA using specifically radiolabelled molecules.

[PMID 10984545OA-icon.png] A common polymorphism associated with antibiotic-induced cardiac arrhythmia.

[PMID 11468227] Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.

[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.