rs128622212
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs128622212(C;C) |
| Make rs128622212(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101349910 |
| Gene | BTK, TIMM8A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs128622212 |
| dbSNP (classic) | rs128622212 |
| ClinGen | rs128622212 |
| ebi | rs128622212 |
| HLI | rs128622212 |
| Exac | rs128622212 |
| Gnomad | rs128622212 |
| Varsome | rs128622212 |
| LitVar | rs128622212 |
| Map | rs128622212 |
| PheGenI | rs128622212 |
| Biobank | rs128622212 |
| 1000 genomes | rs128622212 |
| hgdp | rs128622212 |
| ensembl | rs128622212 |
| geneview | rs128622212 |
| scholar | rs128622212 |
| rs128622212 | |
| pharmgkb | rs128622212 |
| gwascentral | rs128622212 |
| openSNP | rs128622212 |
| 23andMe | rs128622212 |
| SNPshot | rs128622212 |
| SNPdbe | rs128622212 |
| MSV3d | rs128622212 |
| GWAS Ctlg | rs128622212 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs128622212(C;C) |
| Alt | rs128622212(C;C) |
| Reference | Rs128622212(T;T) |
| Significance | Pathogenic |
| Disease | X-linked agammaglobulinemia |
| Variation | info |
| Gene | BTK TIMM8A |
| CLNDBN | X-linked agammaglobulinemia |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100604898A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012145.11, |
