rs193922124
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922124(A;A) |
| Make rs193922124(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101356163 |
| Gene | BTK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922124 |
| dbSNP (classic) | rs193922124 |
| ClinGen | rs193922124 |
| ebi | rs193922124 |
| HLI | rs193922124 |
| Exac | rs193922124 |
| Gnomad | rs193922124 |
| Varsome | rs193922124 |
| LitVar | rs193922124 |
| Map | rs193922124 |
| PheGenI | rs193922124 |
| Biobank | rs193922124 |
| 1000 genomes | rs193922124 |
| hgdp | rs193922124 |
| ensembl | rs193922124 |
| geneview | rs193922124 |
| scholar | rs193922124 |
| rs193922124 | |
| pharmgkb | rs193922124 |
| gwascentral | rs193922124 |
| openSNP | rs193922124 |
| 23andMe | rs193922124 |
| SNPshot | rs193922124 |
| SNPdbe | rs193922124 |
| MSV3d | rs193922124 |
| GWAS Ctlg | rs193922124 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922124(A;A) |
| Alt | rs193922124(A;A) |
| Reference | Rs193922124(C;C) |
| Significance | Pathogenic |
| Disease | X-linked agammaglobulinemia |
| Variation | info |
| Gene | BTK |
| CLNDBN | X-linked agammaglobulinemia |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100611151G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000029409.1, |
[PMID 11809909] Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children.
[PMID 12405164] XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
