rs398124247
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs398124247(C;T) |
| Make rs398124247(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 131510287 |
| Gene | POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124247 |
| dbSNP (classic) | rs398124247 |
| ClinGen | rs398124247 |
| ebi | rs398124247 |
| HLI | rs398124247 |
| Exac | rs398124247 |
| Gnomad | rs398124247 |
| Varsome | rs398124247 |
| LitVar | rs398124247 |
| Map | rs398124247 |
| PheGenI | rs398124247 |
| Biobank | rs398124247 |
| 1000 genomes | rs398124247 |
| hgdp | rs398124247 |
| ensembl | rs398124247 |
| geneview | rs398124247 |
| scholar | rs398124247 |
| rs398124247 | |
| pharmgkb | rs398124247 |
| gwascentral | rs398124247 |
| openSNP | rs398124247 |
| 23andMe | rs398124247 |
| SNPshot | rs398124247 |
| SNPdbe | rs398124247 |
| MSV3d | rs398124247 |
| GWAS Ctlg | rs398124247 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs398124247(T;T) |
| Alt | rs398124247(T;T) |
| Reference | Rs398124247(C;C) |
| Significance | Pathogenic |
| Disease | not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | not provided Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134385674C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000081494.3, RCV000180635.1, |
