rs780201679
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| (T;T) | 0 | common in clinvar |
| Make rs780201679(-;GGAC) |
| Make rs780201679(GGAC;GGAC) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 22270405 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs780201679 |
| dbSNP (classic) | rs780201679 |
| ClinGen | rs780201679 |
| ebi | rs780201679 |
| HLI | rs780201679 |
| Exac | rs780201679 |
| Gnomad | rs780201679 |
| Varsome | rs780201679 |
| LitVar | rs780201679 |
| Map | rs780201679 |
| PheGenI | rs780201679 |
| Biobank | rs780201679 |
| 1000 genomes | rs780201679 |
| hgdp | rs780201679 |
| ensembl | rs780201679 |
| geneview | rs780201679 |
| scholar | rs780201679 |
| rs780201679 | |
| pharmgkb | rs780201679 |
| gwascentral | rs780201679 |
| openSNP | rs780201679 |
| 23andMe | rs780201679 |
| SNPshot | rs780201679 |
| SNPdbe | rs780201679 |
| MSV3d | rs780201679 |
| GWAS Ctlg | rs780201679 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs780201679(GGAC;GGAC) Rs780201679(T;T) |
| Alt | rs780201679(GGAC;GGAC) Rs780201679(T;T) |
| Reference | Rs780201679(-;-) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | Limb-girdle muscular dystrophy, type 2L |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22291951dupT |
| CLNSRC | |
| CLNACC | RCV000336990.1, |
