rs199840952
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199840952(C;T) |
| Make rs199840952(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 97732893 |
| Gene | ZAP70 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199840952 |
| dbSNP (classic) | rs199840952 |
| ClinGen | rs199840952 |
| ebi | rs199840952 |
| HLI | rs199840952 |
| Exac | rs199840952 |
| Gnomad | rs199840952 |
| Varsome | rs199840952 |
| LitVar | rs199840952 |
| Map | rs199840952 |
| PheGenI | rs199840952 |
| Biobank | rs199840952 |
| 1000 genomes | rs199840952 |
| hgdp | rs199840952 |
| ensembl | rs199840952 |
| geneview | rs199840952 |
| scholar | rs199840952 |
| rs199840952 | |
| pharmgkb | rs199840952 |
| gwascentral | rs199840952 |
| openSNP | rs199840952 |
| 23andMe | rs199840952 |
| SNPshot | rs199840952 |
| SNPdbe | rs199840952 |
| MSV3d | rs199840952 |
| GWAS Ctlg | rs199840952 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199840952(T;T) |
| Alt | rs199840952(T;T) |
| Reference | Rs199840952(C;C) |
| Significance | Pathogenic |
| Disease | Combined immunodeficiency Autoimmune disease |
| Variation | info |
| Gene | ZAP70 |
| CLNDBN | Combined immunodeficiency Autoimmune disease, multisystem, infantile-onset, 2 |
| Reversed | 0 |
| HGVS | NC_000002.11:g.98349356C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000208562.1, RCV000227350.2, |
