rs41311117
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs41311117(A;G) |
| Make rs41311117(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 38550362 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41311117 |
| dbSNP (classic) | rs41311117 |
| ClinGen | rs41311117 |
| ebi | rs41311117 |
| HLI | rs41311117 |
| Exac | rs41311117 |
| Gnomad | rs41311117 |
| Varsome | rs41311117 |
| LitVar | rs41311117 |
| Map | rs41311117 |
| PheGenI | rs41311117 |
| Biobank | rs41311117 |
| 1000 genomes | rs41311117 |
| hgdp | rs41311117 |
| ensembl | rs41311117 |
| geneview | rs41311117 |
| scholar | rs41311117 |
| rs41311117 | |
| pharmgkb | rs41311117 |
| gwascentral | rs41311117 |
| openSNP | rs41311117 |
| 23andMe | rs41311117 |
| SNPshot | rs41311117 |
| SNPdbe | rs41311117 |
| MSV3d | rs41311117 |
| GWAS Ctlg | rs41311117 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41311117(C;C) rs41311117(G;G) rs41311117(T;T) |
| Alt | rs41311117(C;C) rs41311117(G;G) rs41311117(T;T) |
| Reference | Rs41311117(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Congenital long QT syndrome not specified not provided Brugada syndrome Long QT syndrome Brugada syndrome 1 Long QT syndrome 3 Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38591853A>C; NC_000003.11:g.38591853A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000058822.3, RCV000041636.3, RCV000058821.4, RCV000171818.2, RCV000202785.1, RCV000204558.3, RCV000251940.1, |
