rs397514251
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGAAGCCCC;AGAAGCCCC) | 0 | common in clinvar |
| (CAGAAGCCC;CAGAAGCCC) | 0 | common in clinvar |
| (GAAGCCCCA;GAAGCCCCA) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs397514251(-;-) |
| Make rs397514251(-;AGAAGCCCC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38555679 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514251 |
| dbSNP (classic) | rs397514251 |
| ClinGen | rs397514251 |
| ebi | rs397514251 |
| HLI | rs397514251 |
| Exac | rs397514251 |
| Gnomad | rs397514251 |
| Varsome | rs397514251 |
| LitVar | rs397514251 |
| Map | rs397514251 |
| PheGenI | rs397514251 |
| Biobank | rs397514251 |
| 1000 genomes | rs397514251 |
| hgdp | rs397514251 |
| ensembl | rs397514251 |
| geneview | rs397514251 |
| scholar | rs397514251 |
| rs397514251 | |
| pharmgkb | rs397514251 |
| gwascentral | rs397514251 |
| openSNP | rs397514251 |
| 23andMe | rs397514251 |
| SNPshot | rs397514251 |
| SNPdbe | rs397514251 |
| MSV3d | rs397514251 |
| GWAS Ctlg | rs397514251 |
| Merged from | Rs794728923 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs397514251(CAGAAGCCC;CAGAAGCCC) rs397514251(-;-) |
| Alt | Rs397514251(CAGAAGCCC;CAGAAGCCC) rs397514251(-;-) |
| Reference | Rs397514251(AGAAGCCCC;AGAAGCCCC) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 3 not provided Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Long QT syndrome 3 not provided Brugada syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38597162_38597170delGGGCTTCTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009962.5, RCV000183165.2, RCV000461009.1, |
