rs3918242
A SNP in the MMP9 gene on chromosome 20. Its most notable genotype is C;C: normal risk
- Gene
- MMP9
- Location
- Chr 2046,007,337 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
- Minor allele frequency
- 15%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableNot ratednormal risk
- C;TNot rated1.14x increased risk for MI; also check haplotype
- T;TNot rated1.33x increased risk for MI; also check haplotype
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 150 words
rs3918242 is one of two SNPs in the MMP9 gene associated with increased risk for myocardial infarction, but not coronary artery disease. The relatively weak odds ratios for carriers of one rs3918242(T) allele was 1.14 (p=0.06), and for (T;T) homozygotes, 1.33 (p=0.19). However, this study of 5,000+ Caucasian patients with heart disease also indicated that a composite genotype (i.e. unphased haplotype) of the two MMP9 SNPs (rs3918242 and rs17576, respectively) yielded a significant odds ratio of 1.25 (CI: 1.07 - 1.48, p=0.007) for the (C;T)/(A;G) combination compared to (C;C)/(G;G) combination genotypes. This MMP9 SNP, located at -1,562 in the promoter region, was associated with further progression of breast cancer; in comparison to the (C;C) genotype, the odds ratio for the rs3918242(C;T) genotype was 3.6 for mixed ethnicities (CI: 1.2-11.1, p=0.001), and for Caucasians only, 9.1 (CI: 1.7-48.4, p=0.01).
Source and license
Adapted from rs3918242 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.