rs1057521106
A SNP in the COL3A1 gene on chromosome 2. Its most notable genotype is C;T: Ehlers-Danlos syndrome, type 4 (predicted)
- Gene
- COL3A1
- Location
- Chr 2188,991,016 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadEhlers-Danlos syndrome, type 4 (predicted)
On SNPedia: (C;C), (C;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.811C>T (p.Arg271Ter) Reported in ClinVar as pathogenic for vascular Ehlers-Danlos syndrome, type 4; also observed in a sudden cardiac death patient
C;T
see text and links via main rs-page
Source and license
Adapted from rs1057521106 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.