rs1805127
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 1.4 | slight (1.4x) increase in risk for atrial fibrillation |
| Make rs1805127(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 34449523 |
| Gene | KCNE1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805127 |
| dbSNP (classic) | rs1805127 |
| ClinGen | rs1805127 |
| ebi | rs1805127 |
| HLI | rs1805127 |
| Exac | rs1805127 |
| Gnomad | rs1805127 |
| Varsome | rs1805127 |
| LitVar | rs1805127 |
| Map | rs1805127 |
| PheGenI | rs1805127 |
| Biobank | rs1805127 |
| 1000 genomes | rs1805127 |
| hgdp | rs1805127 |
| ensembl | rs1805127 |
| geneview | rs1805127 |
| scholar | rs1805127 |
| rs1805127 | |
| pharmgkb | rs1805127 |
| gwascentral | rs1805127 |
| openSNP | rs1805127 |
| 23andMe | rs1805127 |
| SNPshot | rs1805127 |
| SNPdbe | rs1805127 |
| MSV3d | rs1805127 |
| GWAS Ctlg | rs1805127 |
| Merged from | Rs17846179 |
| GMAF | 0.3315 |
| Max Magnitude | 1.4 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1805127(G;G) |
| Alt | rs1805127(G;G) |
| Reference | Rs1805127(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified not provided Hearing loss Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Romano-Ward syndrome Long QT syndrome |
| Variation | info |
| Gene | KCNE1B KCNE1 |
| CLNDBN | not specified not provided Hearing loss, noise-induced, susceptibility to Cardiovascular phenotype Jervell and Lange-Nielsen syndrome Romano-Ward syndrome Long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000021.8:g.35821821T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000035351.4, RCV000119063.5, RCV000171811.2, RCV000241651.1, RCV000312558.1, RCV000352011.1, RCV000398637.1, |
[PMID 17227789] The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.
[PMID 17534376
] Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
[PMID 18520591] Sequence variants in host cell factor C1 are associated with Meniere's disease.
[PMID 18674739] Effect of common KCNE1 and SCN5A ion channel gene variants on T-wave alternans, a marker of cardiac repolarization, during clinical exercise stress test: the Finnish Cardiovascular Study.
[PMID 19019189] Common candidate gene variants are associated with QT interval duration in the general population.
[PMID 19660109] Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.
[PMID 21811988] [Association of rs1805127 polymorphism of KCNE1 gene with atrial fibrillation in Uigur population of Xinjiang].
[PMID 17210] [Carbogen therapy of acute cochlear disorders].
[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.
[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
[PMID 16487223] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
[PMID 17597962] Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family.
[PMID 18426444] Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
[PMID 23874724] KCNE1 rs1805127 Polymorphism Increases the Risk of Atrial Fibrillation: A Meta-Analysis of 10 Studies
[PMID 22934933] A replication study on proposed candidate genes in Meniere's disease, and a review of the current status of genetic studies.
[PMID 23020083] Association of KCNE1 genetic polymorphisms with atrial fibrillation in a Chinese Han population.
