rs4146894
A SNP in the PLEKHA1 gene on chromosome 10. Its most notable genotype is T;T: 9.1x risk for AMD, but replication is lacking
- Gene
- PLEKHA1
- Location
- Chr 10122,395,865 (GRCh38)
- Highest magnitude
- 2.1Worth knowing
- Tested on
- FamilyTreeDNA
- Minor allele frequency
- 50%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot rated9.1x risk for AMD, but replication is lacking
- C;TNot rated2.6x risk for AMD
- C;CNot ratedaverage
SNPedia records rs4146894 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 23% C;T 48% C;C 28%
- European ancestry (Utah)T;T 18% C;T 47% C;C 35%
- Han Chinese (Beijing)T;T 44% C;T 44% C;C 12%
- Japanese (Tokyo)T;T 33% C;T 50% C;C 17%
- Yoruba (Nigeria)T;T 11% C;T 45% C;C 44%
- African ancestry (Southwest US)T;T 11% C;T 56% C;C 33%
- Chinese (Denver)T;T 36% C;T 51% C;C 13%
- Gujarati IndianT;T 26% C;T 52% C;C 22%
- Luhya (Kenya)T;T 16% C;T 41% C;C 43%
- Mexican ancestry (Los Angeles)T;T 32% C;T 54% C;C 14%
- Maasai (Kenya)T;T 10% C;T 47% C;C 42%
- TuscanT;T 17% C;T 47% C;C 37%
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs4146894, a SNP in the PLEKHA1 gene, is associated with increased risk for age related macular degeneration based on a study of 118 Caucasians. The odds ratio for risk of AMD was 9.1 (CI: 4.0-20.9, p=0.0001) for the AA genotype and 2.6 (CI: 1.3-5.5, p=0.04) for the AG genotype. The risk is increased further by the status of two other chromosome 10 SNPs, rs10490924 and rs11200638.
T;T
A study in 2007 identified this and two other variants (rs10490924 and rs11200638) as indicating a 9x risk of age related macular degeneration. The other two snps are now well replicated, but replications of the snp you have are still lacking.
Source and license
Adapted from rs4146894 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.