rs369947678
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs369947678(A;A) |
| Make rs369947678(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 56565446 |
| Gene | UBQLN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369947678 |
| dbSNP (classic) | rs369947678 |
| ClinGen | rs369947678 |
| ebi | rs369947678 |
| HLI | rs369947678 |
| Exac | rs369947678 |
| Gnomad | rs369947678 |
| Varsome | rs369947678 |
| LitVar | rs369947678 |
| Map | rs369947678 |
| PheGenI | rs369947678 |
| Biobank | rs369947678 |
| 1000 genomes | rs369947678 |
| hgdp | rs369947678 |
| ensembl | rs369947678 |
| geneview | rs369947678 |
| scholar | rs369947678 |
| rs369947678 | |
| pharmgkb | rs369947678 |
| gwascentral | rs369947678 |
| openSNP | rs369947678 |
| 23andMe | rs369947678 |
| SNPshot | rs369947678 |
| SNPdbe | rs369947678 |
| MSV3d | rs369947678 |
| GWAS Ctlg | rs369947678 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs369947678(A;A) rs369947678(G;G) rs369947678(T;T) |
| Alt | rs369947678(A;A) rs369947678(G;G) rs369947678(T;T) |
| Reference | Rs369947678(C;C) |
| Significance | Pathogenic |
| Disease | Amyotrophic lateral sclerosis 15 |
| Variation | info |
| Gene | UBQLN2 |
| CLNDBN | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia |
| Reversed | 0 |
| HGVS | NC_000023.10:g.56591879C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022846.4, |
