rs587779540
A SNP in the COL3A1 gene on chromosome 2. Its most notable genotype is G;G: common in clinvar
- Gene
- COL3A1
- Location
- Chr 2189,006,418 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other COL3A1 SNPs
- rs111505097A;GEhlers-Danlos Syndrome (EDS) type 4Very important
- rs111929073G;TEhlers-Danlos Syndrome (EDS) type 4Very important
- rs112371422C;TEhlers-Danlos Syndrome (EDS) type 4Very important
- rs112456072A;GEhlers-Danlos Syndrome (EDS) type 4Very important
- rs113485686A;GEhlers-Danlos Syndrome (EDS) type 4Very important
- rs113871730A;GEhlers-Danlos Syndrome (EDS) type 4Very important
- rs121912913G;TEhlers-Danlos Syndrome (EDS) type 4Very important
- rs121912914A;GEhlers-Danlos Syndrome (EDS) type 4Very important
Notes
From SNPedia
Show notes, about 120 words
rs587779540, also known as c.3167G>A, p.Gly1056Asp and G1056D, is a SNP in exon 44 of the COL3A1 gene. It is a missense mutation resulting in a Gly-to-Asp substitution at amino acid position 3167 of the triple helical region of type III collagen. The mutation is pathogenic for Ehlers-Danlos syndrome, Type IV (vascular EDS). Pepin et al report a median life expectancy of 49 years in EDS-IV patients with Gly-to-Asp mutations in the triple helical region of type III collagen, including rs587779540. The pathogenic rs587779540(A;A) genotype is almost certainly a miscall in Ancestry's test results, based on both Promethease user data as well as publicly available data in OpenSNP. https://opensnp.org/snps/rs587779540/ see OpenSNP
Source and license
Adapted from rs587779540 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.