rs199473318
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| Make rs199473318(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38550967 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473318 |
| dbSNP (classic) | rs199473318 |
| ClinGen | rs199473318 |
| ebi | rs199473318 |
| HLI | rs199473318 |
| Exac | rs199473318 |
| Gnomad | rs199473318 |
| Varsome | rs199473318 |
| LitVar | rs199473318 |
| Map | rs199473318 |
| PheGenI | rs199473318 |
| Biobank | rs199473318 |
| 1000 genomes | rs199473318 |
| hgdp | rs199473318 |
| ensembl | rs199473318 |
| geneview | rs199473318 |
| scholar | rs199473318 |
| rs199473318 | |
| pharmgkb | rs199473318 |
| gwascentral | rs199473318 |
| openSNP | rs199473318 |
| 23andMe | rs199473318 |
| SNPshot | rs199473318 |
| SNPdbe | rs199473318 |
| MSV3d | rs199473318 |
| GWAS Ctlg | rs199473318 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs199473318(G;G) |
| Alt | rs199473318(G;G) |
| Reference | Rs199473318(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Congenital long QT syndrome not provided |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Congenital long QT syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592458T>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000058780.2, RCV000256160.1, |
