HP
| is a | gene |
| is | mentioned by |
| ClinVar | HP |
| GeneCards | HP |
| Diseases | HP |
| wikipedia | HP |
| HP | |
| gopubmed | HP |
| EVS | HP |
| HEFalMp | HP |
| MyGene2 | HP |
| 23andMe | HP |
| # SNPs | 6 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894517 | 0 | 72,060,409 | |
| rs137853233 | 0 | 72,057,415 | |
| rs137853234 | 0 | 72,060,463 | |
| rs5470 | 0 | 72,054,522 | |
| rs5471 | 0 | 72,054,562 | |
| rs8062041 | 0 | 72,055,065 |
Haptoglobin (abbreviated as Hp) is the protein that in humans is encoded by the HP gene, located on chromosome 16. In clinical settings, the haptoglobulin assay is used to screen for and monitor intravascular hemolytic anemia.Wikipedia
Mutations in the HP gene and/or its regulatory regions may cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria.GHR
Note that the major haptoglobin types as defined by protein analysis, HP types 1-1, 1-2, and 2-2, arise at a DNA level from an internal duplication of 1.7kb that includes two exons. Effectively, this represents a bi-allelic copy number variant (CNV), and as such, it is not a SNP and won't be reported based on standard DNA microarrays such as those used by the common direct-to-consumer DNA genotyping products of companies like Ancestry or 23andMe.
