rs67828806
A SNP in the COL1A1 gene on chromosome 17. Its most notable genotype is C;T: Possible "Oi/eds syndrome" (mild collagen disorder): Feedback Wanted
- Gene
- COL1A1
- Location
- Chr 1750,198,177 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadPossible "Oi/eds syndrome" (mild collagen disorder): Feedback Wanted
- C;CGoodcommon in clinvar
SNPedia records rs67828806 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other COL1A1 SNPs
- rs1800012A;AComplex; possibly lower risk of ACL ruptures, yet higher risk for bone loss and disc diseaseWorth knowing
- rs1061237A;Acommon in clinvarTypical
- rs1107946C;Ccommon in complete genomicsTypical
- rs1800215T;Tcommon in clinvarTypical
- rs2075559G;Gcommon in clinvarTypical
- rs17639446A;Acommon in complete genomicsTypical
Notes
From SNPedia
Show notes, about 130 words
rs67828806, also known as c.572G>A, p.Gly191Asp and G191D, represents a rare variant in the COL1A1 gene on chromosome 17. There is one other variant known at this position, c.572G>C, p.Gly191Ala and G191A, but it appears to be even less commonly observed. G191D is reported (in one publication) to lead as an autosomal dominant to "Oi/eds combined syndrome", combining features of osteogenesis imperfecta and Ehlers-Danlos syndrome. See also OMIM 120150.0064 Note: this variant may be benign or at least quite variably penetrant, based on Promethease user feedback.
C;T
See discussion at rs67828806. A 23andMe user with no signs or symptoms of collagen disorders has reported this genotype, so either it may be prone to miscalling (i.e. a technical error) and/or it could be benign.
Source and license
Adapted from rs67828806 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.