rs121918574
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121918574(A;A) |
| Make rs121918574(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 36593939 |
| Gene | C11orf74, RAG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918574 |
| dbSNP (classic) | rs121918574 |
| ClinGen | rs121918574 |
| ebi | rs121918574 |
| HLI | rs121918574 |
| Exac | rs121918574 |
| Gnomad | rs121918574 |
| Varsome | rs121918574 |
| LitVar | rs121918574 |
| Map | rs121918574 |
| PheGenI | rs121918574 |
| Biobank | rs121918574 |
| 1000 genomes | rs121918574 |
| hgdp | rs121918574 |
| ensembl | rs121918574 |
| geneview | rs121918574 |
| scholar | rs121918574 |
| rs121918574 | |
| pharmgkb | rs121918574 |
| gwascentral | rs121918574 |
| openSNP | rs121918574 |
| 23andMe | rs121918574 |
| SNPshot | rs121918574 |
| SNPdbe | rs121918574 |
| MSV3d | rs121918574 |
| GWAS Ctlg | rs121918574 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918574(A;A) |
| Alt | rs121918574(A;A) |
| Reference | Rs121918574(C;C) |
| Significance | Pathogenic |
| Disease | Combined cellular and humoral immune defects with granulomas |
| Variation | info |
| Gene | RAG2 C11orf74 |
| CLNDBN | Combined cellular and humoral immune defects with granulomas |
| Reversed | 1 |
| HGVS | NC_000011.9:g.36615489G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014019.23, |
