rs121918070

A SNP in the TTR gene on chromosome 18. Its most notable genotype is A;G: TTR-related amyloidosis

Gene
TTR
Location
Chr 1831,595,157 (GRCh38)
Highest magnitude
5.5Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadTTR-related amyloidosisVery important · 5.5
  3. G;GBadTTR-related familial amyloid polyneuropathyVery important · 4.0

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Notes

rs121918070, also known as Thr60Ala, Thr80Ala, T60A, T80A, and 238A>G, is a mutation in the transthyretin TTR gene. The risk allele for this SNP, rs121918070(G), is considered causative for TTR-related familial amyloid polyneuropathy, often manifesting as heart-related symptoms, in those carrying either one or two copies. news article indicating up to 1% of Ireland's Donegal County may carry the T60A mutation. 23andMe name: i5004213

G;G

Carriers of one or two G alleles for this SNP are at higher risk for heart-related symptoms, often developing in such people in their 60's.

Source and license

Adapted from rs121918070 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.