rs33930165
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 93% reduction in malarial risk | |
| (A;C) | 29% reduction in malarial risk | |
| (C;C) | variant | |
| (G;G) | 0 | common in clinvar |
| Make rs33930165(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227003 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33930165 |
| dbSNP (classic) | rs33930165 |
| ClinGen | rs33930165 |
| ebi | rs33930165 |
| HLI | rs33930165 |
| Exac | rs33930165 |
| Gnomad | rs33930165 |
| Varsome | rs33930165 |
| LitVar | rs33930165 |
| Map | rs33930165 |
| PheGenI | rs33930165 |
| Biobank | rs33930165 |
| 1000 genomes | rs33930165 |
| hgdp | rs33930165 |
| ensembl | rs33930165 |
| geneview | rs33930165 |
| scholar | rs33930165 |
| rs33930165 | |
| pharmgkb | rs33930165 |
| gwascentral | rs33930165 |
| openSNP | rs33930165 |
| 23andMe | rs33930165 |
| SNPshot | rs33930165 |
| SNPdbe | rs33930165 |
| MSV3d | rs33930165 |
| GWAS Ctlg | rs33930165 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
rs33930165 is a relatively rare SNP found in the beta hemoglobin HBB gene, adjacent to the well-known SNP associated with malarial resistance (rs334). This SNP gives rise to the "Hb C", or hemoglobin C, form of hemoglobin as the HBB forms are commonly named. It is found primarily in a subset of West Africa.
rs33930165 is associated with increased malarial resistance, yet without giving rise to sickle cell anemia. A study of 4,000+ individuals in Burkina Faso found that rs33930165(A;G) heterozygotes had a 29% reduction in risk of clinical malaria (p = 0.0008), and rs33930165(C;C) homozygotes had a 93% reduction (p = 0.0011).[PMID 11713529]
[PMID 21451558] Evidence for epistasis between hemoglobin C and immune genes in human P. falciparum malaria: a family study in Burkina Faso
| ClinVar | |
|---|---|
| Risk | Rs33930165(A;A) Rs33930165(C;C) |
| Alt | Rs33930165(A;A) Rs33930165(C;C) |
| Reference | Rs33930165(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MACHIDA HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN C Malaria Hb SS disease not provided |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MACHIDA HEMOGLOBIN ARLINGTON PARK HEMOGLOBIN C Malaria, resistance to Hb SS disease not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248233C>G; NC_000011.9:g.5248233C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016448.3, RCV000016251.2, RCV000016284.7, RCV000016285.29, RCV000202507.1, RCV000224028.2, |
[PMID 6129204] Hemoglobin Machida [beta 6 (A3) Glu replaced by Gln], a new abnormal hemoglobin discovered in a Japanese family: structure, function and biosynthesis.
