rs121908714
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121908714(A;A) |
| Make rs121908714(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 44626516 |
| Gene | ADA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908714 |
| dbSNP (classic) | rs121908714 |
| ClinGen | rs121908714 |
| ebi | rs121908714 |
| HLI | rs121908714 |
| Exac | rs121908714 |
| Gnomad | rs121908714 |
| Varsome | rs121908714 |
| LitVar | rs121908714 |
| Map | rs121908714 |
| PheGenI | rs121908714 |
| Biobank | rs121908714 |
| 1000 genomes | rs121908714 |
| hgdp | rs121908714 |
| ensembl | rs121908714 |
| geneview | rs121908714 |
| scholar | rs121908714 |
| rs121908714 | |
| pharmgkb | rs121908714 |
| gwascentral | rs121908714 |
| openSNP | rs121908714 |
| 23andMe | rs121908714 |
| SNPshot | rs121908714 |
| SNPdbe | rs121908714 |
| MSV3d | rs121908714 |
| GWAS Ctlg | rs121908714 |
| Merged from | Rs28930970 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121908714(A;A) rs121908714(C;C) rs121908714(T;T) |
| Alt | rs121908714(A;A) rs121908714(C;C) rs121908714(T;T) |
| Reference | Rs121908714(G;G) |
| Significance | Pathogenic |
| Disease | Severe combined immunodeficiency due to ADA deficiency |
| Variation | info |
| Gene | ADA |
| CLNDBN | Severe combined immunodeficiency due to ADA deficiency |
| Reversed | 1 |
| HGVS | NC_000020.10:g.43255157C>A; NC_000020.10:g.43255157C>T |
| CLNSRC | UniProtKB (protein) UniProtKB (variants) OMIM Allelic Variant |
| CLNACC | RCV000059098.1, RCV000002033.3, |
[PMID 3839802
] Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
[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.
