rs120074188
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs120074188(A;A) |
| Make rs120074188(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2768902 |
| Gene | KCNQ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074188 |
| dbSNP (classic) | rs120074188 |
| ClinGen | rs120074188 |
| ebi | rs120074188 |
| HLI | rs120074188 |
| Exac | rs120074188 |
| Gnomad | rs120074188 |
| Varsome | rs120074188 |
| LitVar | rs120074188 |
| Map | rs120074188 |
| PheGenI | rs120074188 |
| Biobank | rs120074188 |
| 1000 genomes | rs120074188 |
| hgdp | rs120074188 |
| ensembl | rs120074188 |
| geneview | rs120074188 |
| scholar | rs120074188 |
| rs120074188 | |
| pharmgkb | rs120074188 |
| gwascentral | rs120074188 |
| openSNP | rs120074188 |
| 23andMe | rs120074188 |
| SNPshot | rs120074188 |
| SNPdbe | rs120074188 |
| MSV3d | rs120074188 |
| GWAS Ctlg | rs120074188 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074188(A;A) |
| Alt | rs120074188(A;A) |
| Reference | Rs120074188(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
| Variation | info |
| Gene | KCNQ1 |
| CLNDBN | Long QT syndrome 1, recessive Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2790132G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003280.3, RCV000046001.2, RCV000057600.3, RCV000182202.1, |
[PMID 10482963] Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
[PMID 19716085
] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
