rs786204796
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs786204796(A;A) |
| Make rs786204796(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 121627039 |
| Gene | ORAI1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204796 |
| dbSNP (classic) | rs786204796 |
| ClinGen | rs786204796 |
| ebi | rs786204796 |
| HLI | rs786204796 |
| Exac | rs786204796 |
| Gnomad | rs786204796 |
| Varsome | rs786204796 |
| LitVar | rs786204796 |
| Map | rs786204796 |
| PheGenI | rs786204796 |
| Biobank | rs786204796 |
| 1000 genomes | rs786204796 |
| hgdp | rs786204796 |
| ensembl | rs786204796 |
| geneview | rs786204796 |
| scholar | rs786204796 |
| rs786204796 | |
| pharmgkb | rs786204796 |
| gwascentral | rs786204796 |
| openSNP | rs786204796 |
| 23andMe | rs786204796 |
| SNPshot | rs786204796 |
| SNPdbe | rs786204796 |
| MSV3d | rs786204796 |
| GWAS Ctlg | rs786204796 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786204796(A;A) |
| Alt | rs786204796(A;A) |
| Reference | Rs786204796(G;G) |
| Significance | Pathogenic |
| Disease | Myopathy |
| Variation | info |
| Gene | ORAI1 |
| CLNDBN | Myopathy, tubular aggregate, 2 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.122064945G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000169690.4, |
