rs1061147
A SNP in the CFH gene on chromosome 1. Its most notable genotype is A;A: 2.76x increased risk for Age Related Macular Degeneration.
- Gene
- CFH
- Location
- Chr 1196,685,194 (GRCh38)
- Highest magnitude
- 2.2Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 30%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBad2.76x increased risk for Age Related Macular Degeneration.
- A;CGoodNormal 0.97x risk for Age Related Macular Degeneration.
- C;CGoodReduced 0.34x risk of Age Related Macular Degeneration.
On SNPedia: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A 13% A;C 33% C;C 53%
- European ancestry (Utah)A;A 12% A;C 50% C;C 38%
- Han Chinese (Beijing)A;A 2% A;C 14% C;C 84%
- Japanese (Tokyo)A;A 2% A;C 8% C;C 90%
- Yoruba (Nigeria)A;A 13% A;C 48% C;C 39%
- African ancestry (Southwest US)A;A 19% A;C 40% C;C 40%
- Chinese (Denver)A;A 0% A;C 5% C;C 95%
- Gujarati IndianA;A 12% A;C 42% C;C 47%
- Luhya (Kenya)A;A 30% A;C 44% C;C 26%
- Mexican ancestry (Los Angeles)A;A 10% A;C 38% C;C 52%
- Maasai (Kenya)A;A 26% A;C 48% C;C 26%
- TuscanA;A 18% A;C 32% C;C 50%
Related
Conditions, medicines and genes
Other CFH SNPs
- rs1061170C;C5.9x risk for AMD; higher mortality among nonagenariansImportant
- rs380390G;Gincreased risk for ARMDWorth knowing
- rs1329428C;C2x increased risk for macular degenerationWorth knowing
- rs572515A;ANo summary available.Worth knowing
- rs800292G;G5% higher risk of Age related macular degenerationWorth knowing
- rs460184T;Tcommon in clinvarTypical
- rs460897G;GNo summary available.Typical
- rs529825G;GNo summary available.Typical
Notes
From SNPedia
Show notes, about 210 words
may influence age related macular degeneration (damage to the eye with ageing) when part of the haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC), but does not appear to do so alone. age related macular degeneration
A;A
When the retina cells in the eye get damaged with age, it is known as Age Related Macular Degeneration. This SNP has about three times the normal risk. This SNP wrecks the brakes on the complementary immune system, so it can become out of control, resulting in inflamation that damages the cells in the eye. The SENS Research Foundation is working on a promising cure for Age Related Macular Degeneration: http://www.sens.org/outreach/conferences/lysosens-synthetic-biology-approach-treat-age-related-macular-degeneration
A;C
When the retina cells in the eye get damaged with age, it is known as Age Related Macular Degeneration. This SNP has about the average risk. The SENS Research Foundation is working on a promising cure for Age Related Macular Degeneration: http://www.sens.org/outreach/conferences/lysosens-synthetic-biology-approach-treat-age-related-macular-degeneration
C;C
When the retina cells in the eye get damaged with age, it is known as Age Related Macular Degeneration. This SNP reduces the risk to about a third of normal.
Source and license
Adapted from rs1061147 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.