rs1107946

A SNP in the COL1A1 gene on chromosome 17. Its most notable genotype is C;C: common in complete genomics

Gene
COL1A1
Location
Chr 1750,203,629 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
25%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in complete genomicsTypical · 0.0

On SNPedia: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Show notes, about 270 words

Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis. Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families. The COL1A1 gene and high myopia susceptibility in Japanese. Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE). Genome-wide association with bone mass and geometry in the Framingham Heart Study. Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures. A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture. Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies. Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system. A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India. Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.

Source and license

Adapted from rs1107946 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.