rs145127621
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs145127621(A;A) |
| Make rs145127621(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 22276125 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145127621 |
| dbSNP (classic) | rs145127621 |
| ClinGen | rs145127621 |
| ebi | rs145127621 |
| HLI | rs145127621 |
| Exac | rs145127621 |
| Gnomad | rs145127621 |
| Varsome | rs145127621 |
| LitVar | rs145127621 |
| Map | rs145127621 |
| PheGenI | rs145127621 |
| Biobank | rs145127621 |
| 1000 genomes | rs145127621 |
| hgdp | rs145127621 |
| ensembl | rs145127621 |
| geneview | rs145127621 |
| scholar | rs145127621 |
| rs145127621 | |
| pharmgkb | rs145127621 |
| gwascentral | rs145127621 |
| openSNP | rs145127621 |
| 23andMe | rs145127621 |
| SNPshot | rs145127621 |
| SNPdbe | rs145127621 |
| MSV3d | rs145127621 |
| GWAS Ctlg | rs145127621 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145127621(A;A) rs145127621(T;T) |
| Alt | rs145127621(A;A) rs145127621(T;T) |
| Reference | Rs145127621(G;G) |
| Significance | Pathogenic |
| Disease | not specified Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | not specified Limb-girdle muscular dystrophy, type 2L |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22297671G>A; NC_000011.9:g.22297671G>T |
| CLNSRC | |
| CLNACC | RCV000293643.1, RCV000276056.1, |
