rs727502835
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs727502835(A;A) |
| Make rs727502835(A;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 21 |
| Position | 46132000 |
| Gene | COL6A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727502835 |
| dbSNP (classic) | rs727502835 |
| ClinGen | rs727502835 |
| ebi | rs727502835 |
| HLI | rs727502835 |
| Exac | rs727502835 |
| Gnomad | rs727502835 |
| Varsome | rs727502835 |
| LitVar | rs727502835 |
| Map | rs727502835 |
| PheGenI | rs727502835 |
| Biobank | rs727502835 |
| 1000 genomes | rs727502835 |
| hgdp | rs727502835 |
| ensembl | rs727502835 |
| geneview | rs727502835 |
| scholar | rs727502835 |
| rs727502835 | |
| pharmgkb | rs727502835 |
| gwascentral | rs727502835 |
| openSNP | rs727502835 |
| 23andMe | rs727502835 |
| SNPshot | rs727502835 |
| SNPdbe | rs727502835 |
| MSV3d | rs727502835 |
| GWAS Ctlg | rs727502835 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727502835(A;A) |
| Alt | rs727502835(A;A) |
| Reference | Rs727502835(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Congenital muscular dystrophy |
| Variation | info |
| Gene | COL6A2 |
| CLNDBN | Congenital muscular dystrophy |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47551914C>A |
| CLNSRC | |
| CLNACC | RCV000149944.1, |
