rs112989722
A SNP in the FBN1 gene on chromosome 15. Its most notable genotype is C;G: Familial thoracic aortic aneurysms and dissections (FTAAD)
- Gene
- FBN1
- Location
- Chr 1548,437,347 (GRCh38)
- Highest magnitude
- 6.5Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in complete genomics
- C;GMost notableBadFamilial thoracic aortic aneurysms and dissections (FTAAD)
- A;GBadMarfan syndrome mutation
SNPedia records rs112989722 on the minus strand: (C;C), (C;G), (C;T). 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
- rs113249837A;GFamilial thoracic aortic aneurysms and dissections (FTAAD)Very important
Notes
From SNPedia
Notes
aka c.6354C>G (p.Ile2118Met or I2118M) and also c.6354C>T (p.Ile2118=); both are considered in ClinVar as likely to be pathogenic for Marfan syndrome.
A;G
see text and links via main rs-page
Source and license
Adapted from rs112989722 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.