23andme Genetic Testing viewer
The FDA has decided not to allow 23andme.com to provide medical information in the form of translating the gene test results to human understandable words. This is done through a variety of free scientific resources most of which have been developed with our tax dollars. However it does take some understanding of genetics as well as just knowing where to look in order to translate what 23andme is allowed to provide into what is actually helpful for consumers. Here is a quick way to know your HFE gene status. On the list below, the three most commonly tested are #3,5 and 12. These are highlighted for convenience. Clicking the blue 'rs' link will open 23andme and show your raw data (since you are signed into your machine it will default to your data). Two letters will show. Note those letters and return to this page. The risk allele is noted next to the link. So if you follow the rs1800562 link and see AA as the result, then you are homozygous for the c282y variation. If instead it shows GG, then you do not have a variant at this location. People with hemochromatosis typically have an AA result or an AG result along with a CG result for the rs1799945 link.
I have included some additional links which are discussed on my Genetics Terms page. Although genes for all types of hemochromatosis are presented here, it is quite possible that there are interrelations between the types.
Hemochromatosis Type 1
HFE Gene Mutations (The rs* link will pop up your 23andme result in all lists)
Transferrin (TF)
Hemochromatosis Type 3
Transferrin Receptor Protein 2 (TFR2)
Hemochromatosis Type 4 Hepcidin-resistant form aka Ferroportin Disease
Ferroportin Mutations Solute Carrier Family 40 (SLC40A1)
Hemochromatosis Type 2B related (Juvenile Hemochromatosis)
Hepcidin Antimicrobial Peptide (HAMP)
Hemochromatosis Type 2A related (Juvenile Hemochromatosis)
Hemochromatosis Type 2 (Juvenile) (HFE2)
I have included some additional links which are discussed on my Genetics Terms page. Although genes for all types of hemochromatosis are presented here, it is quite possible that there are interrelations between the types.
Hemochromatosis Type 1
HFE Gene Mutations (The rs* link will pop up your 23andme result in all lists)
- V53M (rs28934889 risk allele: A) (non-pathogenic, not currently in 23andme)
- V59M (rs111033557 risk allele: A) (non-pathogenic, not currently in 23andme)
- H63D (rs1799945 risk allele: G other)
- H63H
- S65C (rs1800730 risk allele: T pathogenic)
- G93R (rs28934597 risk allele: C pathogenic)
- I105T (rs28934596 risk allele: C pathogenic)
- Q127H (rs28934595 risk allele: C) (pathogenic, but not currently in 23andme)
- E168X
- E168Q
- W169X
- C282Y (rs1800562 risk allele: A pathogenic)
- Q283P (rs111033563 risk allele: C) (pathogenic, but not currently in 23andme)
- V295A (rs143175221 risk allele: C) (pathogenic, but not currently in 23andme)
Transferrin (TF)
- rs3811647 risk allele: A An indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely.
- C247T (rs1799852 risk allele: T)
- rs2280673 risk allele: A
- rs121918679 risk allele: C (Ala477Pro) related to Atransferrinemia.
- rs1049296 risk allele: T (Pro589Ser) This is called TF C2. It creates an increased likelihood of iron loading when combined with c282y and h63d because it forces a reduced TIBC resulting in higher levels of free iron and free radicals. This also Increases susceptibility to Alzheimer's disease but only when combined with c282y. Even more so for compound c282y/h63d heterozygotes or c282y and APOE 4 heterozygotes. APOE 4 status is determined by homozygous for both rs7412 risk allele: C and rs429358 risk allele: C. Details on this association are available on this link.
Hemochromatosis Type 3
Transferrin Receptor Protein 2 (TFR2)
- Y250X
- E60X
- M172K
- AVA Q 594-597
- A679G
Hemochromatosis Type 4 Hepcidin-resistant form aka Ferroportin Disease
Ferroportin Mutations Solute Carrier Family 40 (SLC40A1)
- N144H (pathogenic, but not currently in 23andme)
- V162 (pathogenic deletion, not currently in 23andme)
- Asp157Gly (pathogenic, but not currently in 23andme)
- Gln182His (pathogenic, but not currently in 23andme)
- rs28939076 risk allele: T (Ala77Asp)
- rs104893671 risk allele: A (Gly323Val)
- rs104893672 risk allele: A (Asp181Val)
- rs104893673 risk allele: A (Gly80Val)
- rs104893664 risk allele: T (Gly267Asp)
- Asp270Val Found to cause HH in Africans, but not currently in 23andme.
- Y64N The last 5 are discussed in an article found here, but not currently in 23andme.
- Y64H
- C326Y/S
- S338R
- Y501C
Hemochromatosis Type 2B related (Juvenile Hemochromatosis)
Hepcidin Antimicrobial Peptide (HAMP)
- rs104894696 risk allele: A (Gly71Asp) Also increases c282y phenotype.
- rs104894695 risk allele: T (Arg56Ter) Also increases c282y phenotype.
- Cys70Arg (pathogenic, but not currently in 23andme) Click for citation.
- Cys78Tyr (pathogenic, but not currently in 23andme) Click for citation.
- Arg59Gly aka. R59G (pathogenic, but not currently in 23andme) Increases the phenotypic expression of the HFE C282Y homozygous genotype.
Hemochromatosis Type 2A related (Juvenile Hemochromatosis)
Hemochromatosis Type 2 (Juvenile) (HFE2)
- rs28940586 risk allele: C (C80R)