rs587779548
A SNP in the COL3A1 gene on chromosome 2. Its most notable genotype is A;G: Ehlers-Danlos Syndrome (EDS) type 4
- Gene
- COL3A1
- Location
- Chr 2189,005,413 (GRCh38)
- Highest magnitude
- 6.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadEhlers-Danlos Syndrome (EDS) type 4
- C;GBadEhlers-Danlos Syndrome (EDS) type 4
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (C;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 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
Notes
rs587779548 is a SNP in the COL3A1 gene on chromosome 2. Two dominantly inherited Ehlers-Danlos syndrome type 4 mutations have been reported in ClinVar for this SNP, albeit by a single submitter. They are c.2995G>A (p.Gly999Ser) and c.2995G>C (p.Gly999Arg), which are rs587779548(A) and rs587779548(C), respectively.
Source and license
Adapted from rs587779548 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.