rs187553035
A SNP in the FBN1 gene on chromosome 15. Its most notable genotype is A;C: Marfan syndrome mutation
- Gene
- FBN1
- Location
- Chr 1548,412,646 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadMarfan syndrome mutation
- C;CGoodcommon in clinvar
On SNPedia: (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other FBN1 SNPs
- rs25404C;TFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs140603C;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs140630A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs111231312A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs111687884A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs112645512A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs112728248C;TFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
- rs112989722C;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
Notes
From SNPedia
Notes
FBN1 gene with two known variants: c.8149G>T (p.Glu2717Ter), and, c.8149G>A (p.Glu2717Lys) c.8149G>A (p.Glu2717Lys) is considered benign by most ClinVar sources; however, c.8149G>T (p.Glu2717Ter) is reported by one lab as being pathogenic for thoracic aortic aneurysm and aortic dissection.
A;C
See links via main rs-page
Source and license
Adapted from rs187553035 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.