rs201632009
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201632009(A;A) |
| Make rs201632009(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 129383212 |
| Gene | LAMA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201632009 |
| dbSNP (classic) | rs201632009 |
| ClinGen | rs201632009 |
| ebi | rs201632009 |
| HLI | rs201632009 |
| Exac | rs201632009 |
| Gnomad | rs201632009 |
| Varsome | rs201632009 |
| LitVar | rs201632009 |
| Map | rs201632009 |
| PheGenI | rs201632009 |
| Biobank | rs201632009 |
| 1000 genomes | rs201632009 |
| hgdp | rs201632009 |
| ensembl | rs201632009 |
| geneview | rs201632009 |
| scholar | rs201632009 |
| rs201632009 | |
| pharmgkb | rs201632009 |
| gwascentral | rs201632009 |
| openSNP | rs201632009 |
| 23andMe | rs201632009 |
| SNPshot | rs201632009 |
| SNPdbe | rs201632009 |
| MSV3d | rs201632009 |
| GWAS Ctlg | rs201632009 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201632009(A;A) rs201632009(C;C) rs201632009(T;T) |
| Alt | rs201632009(A;A) rs201632009(C;C) rs201632009(T;T) |
| Reference | Rs201632009(G;G) |
| Significance | Pathogenic |
| Disease | not provided Merosin deficient congenital muscular dystrophy |
| Variation | info |
| Gene | LAMA2 |
| CLNDBN | not provided Merosin deficient congenital muscular dystrophy |
| Reversed | 0 |
| HGVS | NC_000006.11:g.129704357G>T |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000078775.3, RCV000177827.2, |
