rs121908721
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs121908721(C;T) |
| Make rs121908721(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 44621121 |
| Gene | ADA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908721 |
| dbSNP (classic) | rs121908721 |
| ClinGen | rs121908721 |
| ebi | rs121908721 |
| HLI | rs121908721 |
| Exac | rs121908721 |
| Gnomad | rs121908721 |
| Varsome | rs121908721 |
| LitVar | rs121908721 |
| Map | rs121908721 |
| PheGenI | rs121908721 |
| Biobank | rs121908721 |
| 1000 genomes | rs121908721 |
| hgdp | rs121908721 |
| ensembl | rs121908721 |
| geneview | rs121908721 |
| scholar | rs121908721 |
| rs121908721 | |
| pharmgkb | rs121908721 |
| gwascentral | rs121908721 |
| openSNP | rs121908721 |
| 23andMe | rs121908721 |
| SNPshot | rs121908721 |
| SNPdbe | rs121908721 |
| MSV3d | rs121908721 |
| GWAS Ctlg | rs121908721 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908721(G;G) rs121908721(T;T) |
| Alt | rs121908721(G;G) rs121908721(T;T) |
| Reference | Rs121908721(C;C) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency disease |
| Variation | info |
| Gene | ADA |
| CLNDBN | Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency disease |
| Reversed | 1 |
| HGVS | NC_000020.10:g.43249762G>A; NC_000020.10:g.43249762G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
| CLNACC | RCV000002048.3, RCV000029302.1, |
[PMID 1284479] Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
[PMID 8227344
] Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
