|| Higher risk for age-related macular degeneration; slightly higher Alzheimers risk in Caucasians but not Asians
|| slightly higher risk for Alzheimers in Caucasians but not Asians
|| common in clinvar
rs1064039, also known as G73A, Ala25Thr or A25T, is a variant in the cystatin C CST3 gene.
A relatively small study (167 patients) concluded that rs1064039(A;A) genotypes had about a 3 fold increase in risk for exudative age-related macular degeneration (ARMD).[PMID 11815350]
A meta-analysis of 2,410 cases and 2,539 controls reported that although the rs1064039(A) allele is associated with about a 1.5x increased odds ratio for developing Alzheimer's disease in Caucasians, no increased risk was seen in Asians.[PMID 22435454]
[PMID 18830724] Assessment of Alzheimer's disease case-control associations using family-based methods.
[PMID 22435454] Meta-Analysis of the Cystatin C(CST3) Gene G73A Polymorphism and Susceptibility to Alzheimer's Disease.
|| Insufficiently evaluated pathogenic
|| Associated with age-related macular degeneration and alzheimer's disease.