rs138945081
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs138945081(C;T) |
| Make rs138945081(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 17 |
| Position | 50167716 |
| Gene | LOC105371818, SGCA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138945081 |
| dbSNP (classic) | rs138945081 |
| ClinGen | rs138945081 |
| ebi | rs138945081 |
| HLI | rs138945081 |
| Exac | rs138945081 |
| Gnomad | rs138945081 |
| Varsome | rs138945081 |
| LitVar | rs138945081 |
| Map | rs138945081 |
| PheGenI | rs138945081 |
| Biobank | rs138945081 |
| 1000 genomes | rs138945081 |
| hgdp | rs138945081 |
| ensembl | rs138945081 |
| geneview | rs138945081 |
| scholar | rs138945081 |
| rs138945081 | |
| pharmgkb | rs138945081 |
| gwascentral | rs138945081 |
| openSNP | rs138945081 |
| 23andMe | rs138945081 |
| SNPshot | rs138945081 |
| SNPdbe | rs138945081 |
| MSV3d | rs138945081 |
| GWAS Ctlg | rs138945081 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138945081(T;T) |
| Alt | rs138945081(T;T) |
| Reference | Rs138945081(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided |
| Variation | info |
| Gene | SGCA |
| CLNDBN | Limb-girdle muscular dystrophy, type 2D not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.48245077C>T |
| CLNSRC | |
| CLNACC | RCV000309945.1, RCV000485521.1, |
