rs193922552
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GA;GA) | 0 | common in clinvar |
| Make rs193922552(AT;AT) |
| Make rs193922552(AT;GA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227002 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922552 |
| dbSNP (classic) | rs193922552 |
| ClinGen | rs193922552 |
| ebi | rs193922552 |
| HLI | rs193922552 |
| Exac | rs193922552 |
| Gnomad | rs193922552 |
| Varsome | rs193922552 |
| LitVar | rs193922552 |
| Map | rs193922552 |
| PheGenI | rs193922552 |
| Biobank | rs193922552 |
| 1000 genomes | rs193922552 |
| hgdp | rs193922552 |
| ensembl | rs193922552 |
| geneview | rs193922552 |
| scholar | rs193922552 |
| rs193922552 | |
| pharmgkb | rs193922552 |
| gwascentral | rs193922552 |
| openSNP | rs193922552 |
| 23andMe | rs193922552 |
| SNPshot | rs193922552 |
| SNPdbe | rs193922552 |
| MSV3d | rs193922552 |
| GWAS Ctlg | rs193922552 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922552(AT;AT) |
| Alt | rs193922552(AT;AT) |
| Reference | Rs193922552(GA;GA) |
| Significance | Probable-Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248232_5248233delTCinsAT |
| CLNSRC | ClinVar |
| CLNACC | RCV000029966.1, |
