rs375014127
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs375014127(G;T) |
| Make rs375014127(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 22262162 |
| Gene | ANO5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs375014127 |
| dbSNP (classic) | rs375014127 |
| ClinGen | rs375014127 |
| ebi | rs375014127 |
| HLI | rs375014127 |
| Exac | rs375014127 |
| Gnomad | rs375014127 |
| Varsome | rs375014127 |
| LitVar | rs375014127 |
| Map | rs375014127 |
| PheGenI | rs375014127 |
| Biobank | rs375014127 |
| 1000 genomes | rs375014127 |
| hgdp | rs375014127 |
| ensembl | rs375014127 |
| geneview | rs375014127 |
| scholar | rs375014127 |
| rs375014127 | |
| pharmgkb | rs375014127 |
| gwascentral | rs375014127 |
| openSNP | rs375014127 |
| 23andMe | rs375014127 |
| SNPshot | rs375014127 |
| SNPdbe | rs375014127 |
| MSV3d | rs375014127 |
| GWAS Ctlg | rs375014127 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs375014127(A;A) rs375014127(T;T) |
| Alt | rs375014127(A;A) rs375014127(T;T) |
| Reference | Rs375014127(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not specified Myopathy |
| Variation | info |
| Gene | ANO5 |
| CLNDBN | not specified Myopathy |
| Reversed | 0 |
| HGVS | NC_000011.9:g.22283708G>T |
| CLNSRC | |
| CLNACC | RCV000402511.1, RCV000414780.1, |
