rs772370177
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs772370177(A;A) |
| Make rs772370177(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 131509761 |
| Gene | POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772370177 |
| dbSNP (classic) | rs772370177 |
| ClinGen | rs772370177 |
| ebi | rs772370177 |
| HLI | rs772370177 |
| Exac | rs772370177 |
| Gnomad | rs772370177 |
| Varsome | rs772370177 |
| LitVar | rs772370177 |
| Map | rs772370177 |
| PheGenI | rs772370177 |
| Biobank | rs772370177 |
| 1000 genomes | rs772370177 |
| hgdp | rs772370177 |
| ensembl | rs772370177 |
| geneview | rs772370177 |
| scholar | rs772370177 |
| rs772370177 | |
| pharmgkb | rs772370177 |
| gwascentral | rs772370177 |
| openSNP | rs772370177 |
| 23andMe | rs772370177 |
| SNPshot | rs772370177 |
| SNPdbe | rs772370177 |
| MSV3d | rs772370177 |
| GWAS Ctlg | rs772370177 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs772370177(A;A) rs772370177(T;T) |
| Alt | rs772370177(A;A) rs772370177(T;T) |
| Reference | Rs772370177(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134385148G>A |
| CLNSRC | |
| CLNACC | RCV000192686.1, |
