rs147195031
A SNP in the FBN1 gene on chromosome 15. Its most notable genotype is A;A: Marfan syndrome
- Gene
- FBN1
- Location
- Chr 1548,420,780 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMarfan syndrome
- A;GBadUnaffected carrier of Marfan syndrome variant
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;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 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
A patient with two copies of the minor allele of this FBN1 gene SNP has been diagnosed as being a patient with Marfan Syndrome. See also: OMIM 134797.0068
A;A
Having two copies of this missense mutation in the fibrillin-1 gene appears to lead to Marfan Sydrome.
Source and license
Adapted from rs147195031 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.