rs1800012

A SNP in the COL1A1 gene on chromosome 17. Its most notable genotype is A;A: Complex; possibly lower risk of ACL ruptures, yet higher risk for bone loss and disc disease

Gene
COL1A1
Location
Chr 1750,200,388 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
11%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.0
  2. A;CNot ratednormalTypical · 0.0
  3. A;AMost notableGoodComplex; possibly lower risk of ACL ruptures, yet higher risk for bone loss and disc diseaseWorth knowing · 2.0

SNPedia records rs1800012 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other COL1A1 SNPs

All COL1A1 SNPs

Notes

From SNPedia

Show notes, about 160 words

rs1800012 represents a common (allele frequency ~20%) polymorphism consisting of a G-to-T substitution at the first base of a consensus site for the transcription factor Sp1 in the first intron of the COL1A1 gene. The rs1800012(T) allele has been extensively studied, with most observations supporting at least some association with decreased bone mineral density, and increased risk for osteoporosis, fractures, and intervertebral disc disease. rs1800012(T;T) was significantly (p=0.031, OR=0.08, 95%CI <0.01 to 1.46) under-represented in South African participants with anterior cruciate ligament ruptures, based on a study of ~100 patients vs ~100 controls. Summary relevant to intervertebral disc disease for rs1800012(T), from : * odds ratio (OR) 3.6 for TT genotype compared with GT or GG, in study of 966 elderly Dutch * T allele associated with more severe IVDD in study of 75 Southern European male patients vs 25 controls

A;A

see rs1800012 for citations

Source and license

Adapted from rs1800012 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.