rs118204452
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs118204452(C;C) |
| Make rs118204452(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 219157495 |
| Gene | NHEJ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204452 |
| dbSNP (classic) | rs118204452 |
| ClinGen | rs118204452 |
| ebi | rs118204452 |
| HLI | rs118204452 |
| Exac | rs118204452 |
| Gnomad | rs118204452 |
| Varsome | rs118204452 |
| LitVar | rs118204452 |
| Map | rs118204452 |
| PheGenI | rs118204452 |
| Biobank | rs118204452 |
| 1000 genomes | rs118204452 |
| hgdp | rs118204452 |
| ensembl | rs118204452 |
| geneview | rs118204452 |
| scholar | rs118204452 |
| rs118204452 | |
| pharmgkb | rs118204452 |
| gwascentral | rs118204452 |
| openSNP | rs118204452 |
| 23andMe | rs118204452 |
| SNPshot | rs118204452 |
| SNPdbe | rs118204452 |
| MSV3d | rs118204452 |
| GWAS Ctlg | rs118204452 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs118204452(C;C) |
| Alt | rs118204452(C;C) |
| Reference | Rs118204452(T;T) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency with microcephaly |
| Variation | info |
| Gene | NHEJ1 |
| CLNDBN | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| Reversed | 1 |
| HGVS | NC_000002.11:g.220022217A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001033.4, |
