rs794727350
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CTT;CTT) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| (TTC;TTC) | 0 | common in clinvar |
| Make rs794727350(-;-) |
| Make rs794727350(-;TTC) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 22276182 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794727350 |
| dbSNP (classic) | rs794727350 |
| ClinGen | rs794727350 |
| ebi | rs794727350 |
| HLI | rs794727350 |
| Exac | rs794727350 |
| Gnomad | rs794727350 |
| Varsome | rs794727350 |
| LitVar | rs794727350 |
| Map | rs794727350 |
| PheGenI | rs794727350 |
| Biobank | rs794727350 |
| 1000 genomes | rs794727350 |
| hgdp | rs794727350 |
| ensembl | rs794727350 |
| geneview | rs794727350 |
| scholar | rs794727350 |
| rs794727350 | |
| pharmgkb | rs794727350 |
| gwascentral | rs794727350 |
| openSNP | rs794727350 |
| 23andMe | rs794727350 |
| SNPshot | rs794727350 |
| SNPdbe | rs794727350 |
| MSV3d | rs794727350 |
| GWAS Ctlg | rs794727350 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794727350(-;-) Rs794727350(CTT;CTT) |
| Alt | rs794727350(-;-) Rs794727350(CTT;CTT) |
| Reference | Rs794727350(TTC;TTC) |
| Significance | Probable-Pathogenic |
| Disease | not provided Limb-girdle muscular dystrophy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | not provided Limb-girdle muscular dystrophy, type 2L |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22297728_22297730delTTC |
| CLNSRC | |
| CLNACC | RCV000176243.2, RCV000303709.1, |
