rs121912507
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs121912507(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 150951511 |
| Gene | KCNH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912507 |
| dbSNP (classic) | rs121912507 |
| ClinGen | rs121912507 |
| ebi | rs121912507 |
| HLI | rs121912507 |
| Exac | rs121912507 |
| Gnomad | rs121912507 |
| Varsome | rs121912507 |
| LitVar | rs121912507 |
| Map | rs121912507 |
| PheGenI | rs121912507 |
| Biobank | rs121912507 |
| 1000 genomes | rs121912507 |
| hgdp | rs121912507 |
| ensembl | rs121912507 |
| geneview | rs121912507 |
| scholar | rs121912507 |
| rs121912507 | |
| pharmgkb | rs121912507 |
| gwascentral | rs121912507 |
| openSNP | rs121912507 |
| 23andMe | rs121912507 |
| SNPshot | rs121912507 |
| SNPdbe | rs121912507 |
| MSV3d | rs121912507 |
| GWAS Ctlg | rs121912507 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs121912507(A;A) rs121912507(C;C) |
| Alt | rs121912507(A;A) rs121912507(C;C) |
| Reference | Rs121912507(G;G) |
| Significance | Other |
| Disease | not provided Long QT syndrome 2 Congenital long QT syndrome |
| Variation | info |
| Gene | KCNH2 |
| CLNDBN | not provided Long QT syndrome 2 Congenital long QT syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.150648599C>G; NC_000007.13:g.150648599C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000182035.1, RCV000015508.27, RCV000058029.3, RCV000223848.1, |
[PMID 163795
] Response of irradiated mice to live-virus (TC-83) immunization.
[PMID 7889573] A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11854117] Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
[PMID 14998624] Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
