rs138902646
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138902646(C;T) |
| Make rs138902646(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 131523025 |
| Gene | POMT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138902646 |
| dbSNP (classic) | rs138902646 |
| ClinGen | rs138902646 |
| ebi | rs138902646 |
| HLI | rs138902646 |
| Exac | rs138902646 |
| Gnomad | rs138902646 |
| Varsome | rs138902646 |
| LitVar | rs138902646 |
| Map | rs138902646 |
| PheGenI | rs138902646 |
| Biobank | rs138902646 |
| 1000 genomes | rs138902646 |
| hgdp | rs138902646 |
| ensembl | rs138902646 |
| geneview | rs138902646 |
| scholar | rs138902646 |
| rs138902646 | |
| pharmgkb | rs138902646 |
| gwascentral | rs138902646 |
| openSNP | rs138902646 |
| 23andMe | rs138902646 |
| SNPshot | rs138902646 |
| SNPdbe | rs138902646 |
| MSV3d | rs138902646 |
| GWAS Ctlg | rs138902646 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138902646(A;A) rs138902646(T;T) |
| Alt | rs138902646(A;A) rs138902646(T;T) |
| Reference | Rs138902646(C;C) |
| Significance | Other |
| Disease | Limb-girdle muscular dystrophy-dystroglycanopathy not specified |
| Variation | info |
| Gene | POMT1 |
| CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 not specified |
| Reversed | 0 |
| HGVS | NC_000009.11:g.134398412C>A; NC_000009.11:g.134398412C>T |
| CLNSRC | |
| CLNACC | RCV000176088.2, RCV000176086.3, |
