rs1800562(A;A)
Two copies of C282Y, likely affected by hemochromatosis which may be serious if male or post-menopausal.
- Magnitude
- 5.1Very important
- Repute
- Bad
- Frequency
- 0%Average of 9 populations
- On SNPedia
- rs1800562(A;A)
- Gene
- LOC108783645
Frequency
Share of people with A;A in each HapMap population.
- European ancestry (Utah)0%
- Han Chinese (Beijing)0%
- Japanese (Tokyo)0%
- Yoruba (Nigeria)0%
- African ancestry (Southwest US)0%
- Chinese (Denver)0%
- Gujarati Indian0%
- Mexican ancestry (Los Angeles)0%
- Tuscan0%
Other genotypes of rs1800562
Notes
From SNPedia
This rare genotype causes hereditary hemochromatosis. This can result in serious iron overload in males or post-menopausal females, but is easily treated. This ACMG report recommends 4 clinical actions for those carrying two C282Y copies: * Serum ferritin concentrations should be measured to establish disease status and prognosis. * MRI to estimate parenchymal iron content, including the liver and possibly the heart * When serum ferritin and liver enzyme levels are abnormal, liver biopsy can establish or exclude cirrhosis. * Consultation with a medical geneticist and/or genetic counselor. comments at this reddit thread may be useful
Related
Source and license
Adapted from rs1800562(A;A) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.