rs1805128
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1805128(A;A) |
| Make rs1805128(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 21 |
| Position | 34449382 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805128 |
| dbSNP (classic) | rs1805128 |
| ClinGen | rs1805128 |
| ebi | rs1805128 |
| HLI | rs1805128 |
| Exac | rs1805128 |
| Gnomad | rs1805128 |
| Varsome | rs1805128 |
| LitVar | rs1805128 |
| Map | rs1805128 |
| PheGenI | rs1805128 |
| Biobank | rs1805128 |
| 1000 genomes | rs1805128 |
| hgdp | rs1805128 |
| ensembl | rs1805128 |
| geneview | rs1805128 |
| scholar | rs1805128 |
| rs1805128 | |
| pharmgkb | rs1805128 |
| gwascentral | rs1805128 |
| openSNP | rs1805128 |
| 23andMe | rs1805128 |
| SNPshot | rs1805128 |
| SNPdbe | rs1805128 |
| MSV3d | rs1805128 |
| GWAS Ctlg | rs1805128 |
| GMAF | 0.005051 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
23andMe blog Influences QT interval
| OMIM | 176261 |
| Desc | POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; |
| Variant | |
| Related | also |
[PMID 22100668
] A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes
| ClinVar | |
|---|---|
| Risk | rs1805128(A;A) |
| Alt | rs1805128(A;A) |
| Reference | Rs1805128(G;G) |
| Significance | Other |
| Disease | Long QT syndrome 5 Long QT syndrome 2/5 not specified not provided Long QT syndrome Cardiovascular phenotype Romano-Ward syndrome Jervell and Lange-Nielsen syndrome |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | Long QT syndrome 5, acquired, susceptibility to Long QT syndrome 2/5 not specified not provided Long QT syndrome Cardiovascular phenotype Romano-Ward syndrome Jervell and Lange-Nielsen syndrome |
| Reversed | 1 |
| HGVS | NC_000021.8:g.35821680C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014422.2, RCV000014423.25, RCV000035353.7, RCV000057858.4, RCV000157255.11, RCV000247942.1, RCV000346333.1, RCV000399257.1, |
[PMID 19019189] Common candidate gene variants are associated with QT interval duration in the general population.
[PMID 19305408] Common variants at ten loci influence QT interval duration in the QTGEN Study.
[PMID 19530973] Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias.
[PMID 19587794] Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.
[PMID 150516] VE, threat of controls slow spending.
[PMID 9445165] Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
[PMID 10807545] Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
[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.
