rs1799750

A SNP in the MMP1 gene on chromosome 11. Its most notable genotype is C;C: in breast cancer patients, slightly higher risk for poorer prognosis

Gene: MMP1
Location: Chr 11102,799,765 (GRCh38)
Highest magnitude: 1.5Minor
Tested on: 23andMe, FamilyTreeDNA
Minor allele frequency: 45%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

SNPedia records rs1799750 on the minus strand: (-;-), (-;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Breast cancerCondition

Other MMP1 SNPs

All MMP1 SNPs

Notes

From SNPedia

Show notes, about 150 words

rs1799750 is a relatively common SNP at position -1,607 of the promoter of the MMP1 gene, consisting of an insertion polymorphism. In general, the insertion genotype ("2G/2G") is reported to lead to higher transcriptional activity of this gene, leading potentially to higher levels or rates of collagen breakdown. In a study of ~200 breast cancer patients, those with rs1799750(G;G) genotype, i.e. also known as the "2G/2G" genotype, had increased frequency of lymph node metastasis and thus a poorer prognosis. The odds ratio for mixed ethnicities was 3.9 (CI: 1.7-9.4, p=0.001), and when calculated only for Caucasians, 2.6 (CI: 1.0-6.9, p=0.06). Subsequently, a 2012 meta-analysis based on about 10,000 cancer cases, half of which metastasized, concluded that 2G/2G genotypes had a slightly higher overall risk of metastasis (OR = 1.44 for homozygous minor, CI: 1.05-1.98). no influence on varicose veins

Source and license

Adapted from rs1799750 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.