rs397509423
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs397509423(C;T) |
| Make rs397509423(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 49723293 |
| Gene | GMPPB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397509423 |
| dbSNP (classic) | rs397509423 |
| ClinGen | rs397509423 |
| ebi | rs397509423 |
| HLI | rs397509423 |
| Exac | rs397509423 |
| Gnomad | rs397509423 |
| Varsome | rs397509423 |
| LitVar | rs397509423 |
| Map | rs397509423 |
| PheGenI | rs397509423 |
| Biobank | rs397509423 |
| 1000 genomes | rs397509423 |
| hgdp | rs397509423 |
| ensembl | rs397509423 |
| geneview | rs397509423 |
| scholar | rs397509423 |
| rs397509423 | |
| pharmgkb | rs397509423 |
| gwascentral | rs397509423 |
| openSNP | rs397509423 |
| 23andMe | rs397509423 |
| SNPshot | rs397509423 |
| SNPdbe | rs397509423 |
| MSV3d | rs397509423 |
| GWAS Ctlg | rs397509423 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs397509423(T;T) |
| Alt | rs397509423(T;T) |
| Reference | Rs397509423(C;C) |
| Significance | Pathogenic |
| Disease | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| Variation | info |
| Gene | GMPPB |
| CLNDBN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.49760726G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000054434.4, |
