rs11555566
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs11555566(A;G) |
| Make rs11555566(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 44626579 |
| Gene | ADA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11555566 |
| dbSNP (classic) | rs11555566 |
| ClinGen | rs11555566 |
| ebi | rs11555566 |
| HLI | rs11555566 |
| Exac | rs11555566 |
| Gnomad | rs11555566 |
| Varsome | rs11555566 |
| LitVar | rs11555566 |
| Map | rs11555566 |
| PheGenI | rs11555566 |
| Biobank | rs11555566 |
| 1000 genomes | rs11555566 |
| hgdp | rs11555566 |
| ensembl | rs11555566 |
| geneview | rs11555566 |
| scholar | rs11555566 |
| rs11555566 | |
| pharmgkb | rs11555566 |
| gwascentral | rs11555566 |
| openSNP | rs11555566 |
| 23andMe | rs11555566 |
| SNPshot | rs11555566 |
| SNPdbe | rs11555566 |
| MSV3d | rs11555566 |
| GWAS Ctlg | rs11555566 |
| GMAF | 0.0427 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs11555566(G;G) |
| Alt | rs11555566(G;G) |
| Reference | Rs11555566(A;A) |
| Significance | Other |
| Disease | Severe combined immunodeficiency due to ADA deficiency not specified |
| Variation | info |
| Gene | ADA |
| CLNDBN | Severe combined immunodeficiency due to ADA deficiency not specified |
| Reversed | 1 |
| HGVS | NC_000020.10:g.43255220T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002031.3, RCV000247281.1, |
