rs148508754
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs148508754(C;G) |
| Make rs148508754(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 36594065 |
| Gene | C11orf74, RAG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148508754 |
| dbSNP (classic) | rs148508754 |
| ClinGen | rs148508754 |
| ebi | rs148508754 |
| HLI | rs148508754 |
| Exac | rs148508754 |
| Gnomad | rs148508754 |
| Varsome | rs148508754 |
| LitVar | rs148508754 |
| Map | rs148508754 |
| PheGenI | rs148508754 |
| Biobank | rs148508754 |
| 1000 genomes | rs148508754 |
| hgdp | rs148508754 |
| ensembl | rs148508754 |
| geneview | rs148508754 |
| scholar | rs148508754 |
| rs148508754 | |
| pharmgkb | rs148508754 |
| gwascentral | rs148508754 |
| openSNP | rs148508754 |
| 23andMe | rs148508754 |
| SNPshot | rs148508754 |
| SNPdbe | rs148508754 |
| MSV3d | rs148508754 |
| GWAS Ctlg | rs148508754 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148508754(G;G) |
| Alt | rs148508754(G;G) |
| Reference | Rs148508754(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Severe combined immunodeficiency disease |
| Variation | info |
| Gene | RAG2 C11orf74 |
| CLNDBN | Severe combined immunodeficiency disease |
| Reversed | 0 |
| HGVS | NC_000011.9:g.36615615C>G |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030395.1, |
