rs33943001
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33943001(A;A) |
| Make rs33943001(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226800 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33943001 |
| dbSNP (classic) | rs33943001 |
| ClinGen | rs33943001 |
| ebi | rs33943001 |
| HLI | rs33943001 |
| Exac | rs33943001 |
| Gnomad | rs33943001 |
| Varsome | rs33943001 |
| LitVar | rs33943001 |
| Map | rs33943001 |
| PheGenI | rs33943001 |
| Biobank | rs33943001 |
| 1000 genomes | rs33943001 |
| hgdp | rs33943001 |
| ensembl | rs33943001 |
| geneview | rs33943001 |
| scholar | rs33943001 |
| rs33943001 | |
| pharmgkb | rs33943001 |
| gwascentral | rs33943001 |
| openSNP | rs33943001 |
| 23andMe | rs33943001 |
| SNPshot | rs33943001 |
| SNPdbe | rs33943001 |
| MSV3d | rs33943001 |
| GWAS Ctlg | rs33943001 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33943001(A;A) rs33943001(C;C) |
| Alt | rs33943001(A;A) rs33943001(C;C) |
| Reference | Rs33943001(G;G) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248030C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016704.27, |
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 2283297] A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA).
[PMID 1517108] Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).
