Markers / Condition
Which genes affect your eyes?
Eye colour is the trait most people check first, and it is unusually tractable: one position accounts for most of the blue-versus-brown difference in Europeans. Macular degeneration, at the other end of life, has two common variants with among the largest effects of any common disease variants known.
The markers
| Marker | Gene | What it does | Evidence |
|---|---|---|---|
| rs12913832 | HERC2 | Eye colour | established |
| rs1061170 | CFH | Age-related macular degeneration, CFH | established |
| rs10490924 | ARMS2 | Age-related macular degeneration, second locus | established |
Eye colour
rs12913832 · HERC2
A single position in a control region for the pigment gene OCA2 accounts for most of the blue-versus-brown difference in people of European descent. Nearly every blue-eyed person alive carries the same version, inherited from one ancestor.
Two copies: Blue or grey eyes very likely
Age-related macular degeneration, CFH
rs1061170 · CFH
The leading cause of sight loss in older adults in wealthy countries. This change in complement factor H was the first common variant found for it and has one of the largest effect sizes of any common disease variant known.
Two copies: Two higher-risk copies, roughly 5 to 7 times the background risk
Age-related macular degeneration, second locus
rs10490924 · ARMS2
The other major common-variant contributor to macular degeneration, independent of CFH. Carrying risk versions of both raises risk considerably more than either alone.
Two copies: Two higher-risk copies, roughly 6 to 8 times the background risk
Which versions do you carry?
All of these are readable from an ordinary home DNA test file, in your browser, without uploading it anywhere.
Read my fileCommon questions
Which genes affect your eyes?
Eye colour is the trait most people check first, and it is unusually tractable: one position accounts for most of the blue-versus-brown difference in Europeans. Macular degeneration, at the other end of life, has two common variants with among the largest effects of any common disease variants known. The markers most often cited are rs12913832 in HERC2, rs1061170 in CFH, rs10490924 in ARMS2.
What does rs12913832 do?
A single position in a control region for the pigment gene OCA2 accounts for most of the blue-versus-brown difference in people of European descent. Nearly every blue-eyed person alive carries the same version, inherited from one ancestor. Carrying two copies: blue or grey eyes very likely.
What does rs1061170 do?
The leading cause of sight loss in older adults in wealthy countries. This change in complement factor H was the first common variant found for it and has one of the largest effect sizes of any common disease variant known. Carrying two copies: two higher-risk copies, roughly 5 to 7 times the background risk.
What does rs10490924 do?
The other major common-variant contributor to macular degeneration, independent of CFH. Carrying risk versions of both raises risk considerably more than either alone. Carrying two copies: two higher-risk copies, roughly 6 to 8 times the background risk.
Reference information, not medical advice and not a diagnosis. See the medical disclaimer.