rs1329428
A SNP in the CFH gene on chromosome 1. Its most notable genotype is C;C: 2x increased risk for macular degeneration
- Gene
- CFH
- Location
- Chr 1196,733,680 (GRCh38)
- Highest magnitude
- 2.1Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 44%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1329428 on the minus strand: (A;A), (A;G), (G;G). 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.
- AverageT;T 21% C;T 46% C;C 33%
- European ancestry (Utah)T;T 18% C;T 49% C;C 33%
- Han Chinese (Beijing)T;T 16% C;T 44% C;C 40%
- Japanese (Tokyo)T;T 25% C;T 44% C;C 31%
- Yoruba (Nigeria)T;T 31% C;T 52% C;C 18%
- African ancestry (Southwest US)T;T 14% C;T 58% C;C 28%
- Chinese (Denver)T;T 24% C;T 39% C;C 36%
- Gujarati IndianT;T 34% C;T 42% C;C 23%
- Luhya (Kenya)T;T 17% C;T 42% C;C 41%
- Mexican ancestry (Los Angeles)T;T 13% C;T 55% C;C 32%
- Maasai (Kenya)T;T 12% C;T 39% C;C 49%
- TuscanT;T 25% C;T 43% C;C 32%
Related
Conditions, medicines and genes
Other CFH SNPs
- rs1061170C;C5.9x risk for AMD; higher mortality among nonagenariansImportant
- rs1061147A;A2.76x increased risk for Age Related Macular Degeneration.Worth knowing
- rs380390G;Gincreased risk for ARMDWorth 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
Notes
linked to blindness in age related macular degeneration rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428 Significant associations were detected for AMD with rs3753394 rs800292 rs1329428 A haplotype of rs3753394 rs800292 rs1061170 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese
Source and license
Adapted from rs1329428 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.