rs587779497
A SNP in the COL3A1 gene on chromosome 2. Its most notable genotype is A;T: Ehlers-Danlos Syndrome (EDS) type 4
- Gene
- COL3A1
- Location
- Chr 2188,989,451 (GRCh38)
- Highest magnitude
- 6.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;TMost notableBadEhlers-Danlos Syndrome (EDS) type 4
- G;GNot rated99% of Ancestry users are told they have this genotype
- G;TBadEhlers-Danlos Syndrome (EDS) type 4
- T;TGoodcommon in clinvar
On SNPedia: (A;T), (G;G), (G;T), (T;T). 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
aka c.690+2T>G (p.Gly213_Asp230del) and also c.690+2T>A (p.Gly213_Asp230del) Both are annotated in ClinVar as pathogenic for Ehlers-Danlos syndrome type 4. However, on the only DNA chip used by a major company that is reported to assay one of these variants (c.690+2T>G), 99% of people are given raw data indicating they are rs188989451(G;G).
Source and license
Adapted from rs587779497 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.