rs746136135
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs746136135(C;T) |
| Make rs746136135(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 46875551 |
| Gene | LRP4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs746136135 |
| dbSNP (classic) | rs746136135 |
| ClinGen | rs746136135 |
| ebi | rs746136135 |
| HLI | rs746136135 |
| Exac | rs746136135 |
| Gnomad | rs746136135 |
| Varsome | rs746136135 |
| LitVar | rs746136135 |
| Map | rs746136135 |
| PheGenI | rs746136135 |
| Biobank | rs746136135 |
| 1000 genomes | rs746136135 |
| hgdp | rs746136135 |
| ensembl | rs746136135 |
| geneview | rs746136135 |
| scholar | rs746136135 |
| rs746136135 | |
| pharmgkb | rs746136135 |
| gwascentral | rs746136135 |
| openSNP | rs746136135 |
| 23andMe | rs746136135 |
| SNPshot | rs746136135 |
| SNPdbe | rs746136135 |
| MSV3d | rs746136135 |
| GWAS Ctlg | rs746136135 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs746136135(T;T) |
| Alt | rs746136135(T;T) |
| Reference | Rs746136135(C;C) |
| Significance | Pathogenic |
| Disease | Myasthenic syndrome |
| Variation | info |
| Gene | LRP4 |
| CLNDBN | Myasthenic syndrome, congenital, 17 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.46897102C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000170321.4, |
