rs120074185
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs120074185(C;T) |
| Make rs120074185(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2776032 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074185 |
| dbSNP (classic) | rs120074185 |
| ClinGen | rs120074185 |
| ebi | rs120074185 |
| HLI | rs120074185 |
| Exac | rs120074185 |
| Gnomad | rs120074185 |
| Varsome | rs120074185 |
| LitVar | rs120074185 |
| Map | rs120074185 |
| PheGenI | rs120074185 |
| Biobank | rs120074185 |
| 1000 genomes | rs120074185 |
| hgdp | rs120074185 |
| ensembl | rs120074185 |
| geneview | rs120074185 |
| scholar | rs120074185 |
| rs120074185 | |
| pharmgkb | rs120074185 |
| gwascentral | rs120074185 |
| openSNP | rs120074185 |
| 23andMe | rs120074185 |
| SNPshot | rs120074185 |
| SNPdbe | rs120074185 |
| MSV3d | rs120074185 |
| GWAS Ctlg | rs120074185 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074185(A;A) rs120074185(T;T) |
| Alt | rs120074185(A;A) rs120074185(T;T) |
| Reference | Rs120074185(C;C) |
| Significance | Pathogenic |
| Disease | Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2797262C>A; NC_000011.9:g.2797262C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000057612.3, RCV000479287.1, RCV000003274.2, RCV000046011.4, RCV000057613.3, RCV000182211.4, |
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 18174212
] Kv7.1 (KCNQ1) properties and channelopathies.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
