rs151344631
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs151344631(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2571333 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151344631 |
| dbSNP (classic) | rs151344631 |
| ClinGen | rs151344631 |
| ebi | rs151344631 |
| HLI | rs151344631 |
| Exac | rs151344631 |
| Gnomad | rs151344631 |
| Varsome | rs151344631 |
| LitVar | rs151344631 |
| Map | rs151344631 |
| PheGenI | rs151344631 |
| Biobank | rs151344631 |
| 1000 genomes | rs151344631 |
| hgdp | rs151344631 |
| ensembl | rs151344631 |
| geneview | rs151344631 |
| scholar | rs151344631 |
| rs151344631 | |
| pharmgkb | rs151344631 |
| gwascentral | rs151344631 |
| openSNP | rs151344631 |
| 23andMe | rs151344631 |
| SNPshot | rs151344631 |
| SNPdbe | rs151344631 |
| MSV3d | rs151344631 |
| GWAS Ctlg | rs151344631 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs151344631(A;A) |
| Alt | rs151344631(A;A) |
| Reference | Rs151344631(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Long QT syndrome not provided Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1 Long QT syndrome, LQT1 subtype not provided Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2592563G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000030815.2, RCV000046099.2, RCV000057723.6, RCV000119056.2, RCV000148547.1, RCV000252730.1, |
[PMID 18580685] A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
[PMID 20421371
] Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.
