rs869320702
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs869320702(A;A) |
| Make rs869320702(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 157367488 |
| Gene | DNAJB6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869320702 |
| dbSNP (classic) | rs869320702 |
| ClinGen | rs869320702 |
| ebi | rs869320702 |
| HLI | rs869320702 |
| Exac | rs869320702 |
| Gnomad | rs869320702 |
| Varsome | rs869320702 |
| LitVar | rs869320702 |
| Map | rs869320702 |
| PheGenI | rs869320702 |
| Biobank | rs869320702 |
| 1000 genomes | rs869320702 |
| hgdp | rs869320702 |
| ensembl | rs869320702 |
| geneview | rs869320702 |
| scholar | rs869320702 |
| rs869320702 | |
| pharmgkb | rs869320702 |
| gwascentral | rs869320702 |
| openSNP | rs869320702 |
| 23andMe | rs869320702 |
| SNPshot | rs869320702 |
| SNPdbe | rs869320702 |
| MSV3d | rs869320702 |
| GWAS Ctlg | rs869320702 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs869320702(A;A) |
| Alt | rs869320702(A;A) |
| Reference | Rs869320702(G;G) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | DNAJB6 |
| CLNDBN | Limb-girdle muscular dystrophy, type 1E |
| Reversed | 0 |
| HGVS | NC_000007.13:g.157160182G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210843.2, |
