rs143680577
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs143680577(C;G) |
| Make rs143680577(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 129098213 |
| Gene | LAMA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143680577 |
| dbSNP (classic) | rs143680577 |
| ClinGen | rs143680577 |
| ebi | rs143680577 |
| HLI | rs143680577 |
| Exac | rs143680577 |
| Gnomad | rs143680577 |
| Varsome | rs143680577 |
| LitVar | rs143680577 |
| Map | rs143680577 |
| PheGenI | rs143680577 |
| Biobank | rs143680577 |
| 1000 genomes | rs143680577 |
| hgdp | rs143680577 |
| ensembl | rs143680577 |
| geneview | rs143680577 |
| scholar | rs143680577 |
| rs143680577 | |
| pharmgkb | rs143680577 |
| gwascentral | rs143680577 |
| openSNP | rs143680577 |
| 23andMe | rs143680577 |
| SNPshot | rs143680577 |
| SNPdbe | rs143680577 |
| MSV3d | rs143680577 |
| GWAS Ctlg | rs143680577 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143680577(G;G) rs143680577(T;T) |
| Alt | rs143680577(G;G) rs143680577(T;T) |
| Reference | Rs143680577(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Congenital muscular dystrophy |
| Variation | info |
| Gene | LAMA2 |
| CLNDBN | Congenital muscular dystrophy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.129419358C>T |
| CLNSRC | |
| CLNACC | RCV000149982.1, |
