rs2234916
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs2234916(A;G) |
| Make rs2234916(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34370500 |
| Gene | KCNE2, LOC105372791 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2234916 |
| dbSNP (classic) | rs2234916 |
| ClinGen | rs2234916 |
| ebi | rs2234916 |
| HLI | rs2234916 |
| Exac | rs2234916 |
| Gnomad | rs2234916 |
| Varsome | rs2234916 |
| LitVar | rs2234916 |
| Map | rs2234916 |
| PheGenI | rs2234916 |
| Biobank | rs2234916 |
| 1000 genomes | rs2234916 |
| hgdp | rs2234916 |
| ensembl | rs2234916 |
| geneview | rs2234916 |
| scholar | rs2234916 |
| rs2234916 | |
| pharmgkb | rs2234916 |
| gwascentral | rs2234916 |
| openSNP | rs2234916 |
| 23andMe | rs2234916 |
| SNPshot | rs2234916 |
| SNPdbe | rs2234916 |
| MSV3d | rs2234916 |
| GWAS Ctlg | rs2234916 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| 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 Cardiovascular phenotype |
| Variation | info |
| Gene | KCNE2 |
| CLNDBN | not provided not specified Long QT syndrome, drug-associated Long QT syndrome 6 Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000021.8:g.35742799A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000058368.5, RCV000170566.2, RCV000171812.2, RCV000198733.3, RCV000248455.1, |
[PMID 19019189
] Common candidate gene variants are associated with QT interval duration in the general population.
[PMID 19214780] 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 10984545] 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.
