rs113812345
A SNP in the FBN1 gene on chromosome 15. Its most notable genotype is A;G: Familial thoracic aortic aneurysms and dissections (FTAAD)
- Gene
- FBN1
- Location
- Chr 1548,513,591 (GRCh38)
- Highest magnitude
- 6.5Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadFamilial thoracic aortic aneurysms and dissections (FTAAD)
- A;ABadMarfan syndrome mutation
SNPedia records rs113812345 on the minus strand: (C;C), (C;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 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
rs113812345, also known as c.1546C>T, p.Arg516Ter and R516X, represents a mutation in the FBN1 gene on chromosome 15. The rare (T) allele is considered pathogenic for Marfan syndrome in ClinVar by multiple sources. rs113812345 appears to be tested under the name i5043856 by 23andMe on some of their chips.
A;A
see rs113812345 and Marfan syndrome
Source and license
Adapted from rs113812345 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.