rs199641706
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs199641706(C;C) |
| Make rs199641706(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 5 |
| Position | 35867417 |
| Gene | IL7R |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199641706 |
| dbSNP (classic) | rs199641706 |
| ClinGen | rs199641706 |
| ebi | rs199641706 |
| HLI | rs199641706 |
| Exac | rs199641706 |
| Gnomad | rs199641706 |
| Varsome | rs199641706 |
| LitVar | rs199641706 |
| Map | rs199641706 |
| PheGenI | rs199641706 |
| Biobank | rs199641706 |
| 1000 genomes | rs199641706 |
| hgdp | rs199641706 |
| ensembl | rs199641706 |
| geneview | rs199641706 |
| scholar | rs199641706 |
| rs199641706 | |
| pharmgkb | rs199641706 |
| gwascentral | rs199641706 |
| openSNP | rs199641706 |
| 23andMe | rs199641706 |
| SNPshot | rs199641706 |
| SNPdbe | rs199641706 |
| MSV3d | rs199641706 |
| GWAS Ctlg | rs199641706 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199641706(A;A) rs199641706(C;C) |
| Alt | rs199641706(A;A) rs199641706(C;C) |
| Reference | Rs199641706(T;T) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency |
| Variation | info |
| Gene | IL7R |
| CLNDBN | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive |
| Reversed | 0 |
| HGVS | NC_000005.9:g.35867519T>A |
| CLNSRC | |
| CLNACC | RCV000416601.1, |
