rs33969853
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in complete genomics |
| (A;A) | 0 | common in clinvar |
| Make rs33969853(-;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226675 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33969853 |
| dbSNP (classic) | rs33969853 |
| ClinGen | rs33969853 |
| ebi | rs33969853 |
| HLI | rs33969853 |
| Exac | rs33969853 |
| Gnomad | rs33969853 |
| Varsome | rs33969853 |
| LitVar | rs33969853 |
| Map | rs33969853 |
| PheGenI | rs33969853 |
| Biobank | rs33969853 |
| 1000 genomes | rs33969853 |
| hgdp | rs33969853 |
| ensembl | rs33969853 |
| geneview | rs33969853 |
| scholar | rs33969853 |
| rs33969853 | |
| pharmgkb | rs33969853 |
| gwascentral | rs33969853 |
| openSNP | rs33969853 |
| 23andMe | rs33969853 |
| SNPshot | rs33969853 |
| SNPdbe | rs33969853 |
| MSV3d | rs33969853 |
| GWAS Ctlg | rs33969853 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs33969853(A;A) rs33969853(T;T) |
| Alt | Rs33969853(A;A) rs33969853(T;T) |
| Reference | Rs33969853(-;-) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247905dupT; NC_000011.9:g.5247906dupA |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016675.27, RCV000016690.26, |
[PMID 6585831
] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.
