rs33914668
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33914668(A;G) |
| Make rs33914668(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225728 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33914668 |
| dbSNP (classic) | rs33914668 |
| ClinGen | rs33914668 |
| ebi | rs33914668 |
| HLI | rs33914668 |
| Exac | rs33914668 |
| Gnomad | rs33914668 |
| Varsome | rs33914668 |
| LitVar | rs33914668 |
| Map | rs33914668 |
| PheGenI | rs33914668 |
| Biobank | rs33914668 |
| 1000 genomes | rs33914668 |
| hgdp | rs33914668 |
| ensembl | rs33914668 |
| geneview | rs33914668 |
| scholar | rs33914668 |
| rs33914668 | |
| pharmgkb | rs33914668 |
| gwascentral | rs33914668 |
| openSNP | rs33914668 |
| 23andMe | rs33914668 |
| SNPshot | rs33914668 |
| SNPdbe | rs33914668 |
| MSV3d | rs33914668 |
| GWAS Ctlg | rs33914668 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33914668(C;C) rs33914668(G;G) |
| Alt | rs33914668(C;C) rs33914668(G;G) |
| Reference | Rs33914668(A;A) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246958T>C; NC_000011.9:g.5246958T>G |
| CLNSRC | HBVAR |
| CLNACC | RCV000020336.2, RCV000020335.2, |
[PMID 2424301] The beta zero-thalassemia in an American black family is due to a single nucleotide substitution in the acceptor splice junction of the second intervening sequence.
[PMID 2123063] Compound heterozygosity for a mild beta (+) and a rare beta(0)-thalassemia allele.
[PMID 2987809
] Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.
[PMID 6583702] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.
