rs148001159
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148001159(C;C) |
| Make rs148001159(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 35860983 |
| Gene | IL7R, LOC105374724 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148001159 |
| dbSNP (classic) | rs148001159 |
| ClinGen | rs148001159 |
| ebi | rs148001159 |
| HLI | rs148001159 |
| Exac | rs148001159 |
| Gnomad | rs148001159 |
| Varsome | rs148001159 |
| LitVar | rs148001159 |
| Map | rs148001159 |
| PheGenI | rs148001159 |
| Biobank | rs148001159 |
| 1000 genomes | rs148001159 |
| hgdp | rs148001159 |
| ensembl | rs148001159 |
| geneview | rs148001159 |
| scholar | rs148001159 |
| rs148001159 | |
| pharmgkb | rs148001159 |
| gwascentral | rs148001159 |
| openSNP | rs148001159 |
| 23andMe | rs148001159 |
| SNPshot | rs148001159 |
| SNPdbe | rs148001159 |
| MSV3d | rs148001159 |
| GWAS Ctlg | rs148001159 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148001159(C;C) |
| Alt | rs148001159(C;C) |
| Reference | Rs148001159(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Severe combined immunodeficiency disease Severe Combined Immune Deficiency |
| Variation | info |
| Gene | IL7R |
| CLNDBN | Severe combined immunodeficiency disease Severe Combined Immune Deficiency |
| Reversed | 0 |
| HGVS | NC_000005.9:g.35861085G>C |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030059.1, RCV000397984.1, |
