rs397514263
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397514263(C;T) |
| Make rs397514263(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 211383719 |
| Gene | ERBB4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514263 |
| dbSNP (classic) | rs397514263 |
| ClinGen | rs397514263 |
| ebi | rs397514263 |
| HLI | rs397514263 |
| Exac | rs397514263 |
| Gnomad | rs397514263 |
| Varsome | rs397514263 |
| LitVar | rs397514263 |
| Map | rs397514263 |
| PheGenI | rs397514263 |
| Biobank | rs397514263 |
| 1000 genomes | rs397514263 |
| hgdp | rs397514263 |
| ensembl | rs397514263 |
| geneview | rs397514263 |
| scholar | rs397514263 |
| rs397514263 | |
| pharmgkb | rs397514263 |
| gwascentral | rs397514263 |
| openSNP | rs397514263 |
| 23andMe | rs397514263 |
| SNPshot | rs397514263 |
| SNPdbe | rs397514263 |
| MSV3d | rs397514263 |
| GWAS Ctlg | rs397514263 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397514263(T;T) |
| Alt | rs397514263(T;T) |
| Reference | Rs397514263(C;C) |
| Significance | Pathogenic |
| Disease | not provided Amyotrophic lateral sclerosis 19 |
| Variation | info |
| Gene | ERBB4 |
| CLNDBN | not provided Amyotrophic lateral sclerosis 19 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.212248444G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000054813.1, RCV000074383.2, |
