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.
- A;AGoodcommon in clinvar
- A;GMost notableBadTTR-related amyloidosis
- G;GBadTTR-related familial amyloid polyneuropathy
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
Other TTR SNPs
- rs11541790C;TTTR-related amyloidosisVery important
- rs11541796A;GTTR-related amyloidosisVery important
- rs28933979A;GTTR-related amyloidosisVery important
- rs76992529A;GTTR-related amyloidosisVery important
- rs79977247C;TTTR-related amyloidosisVery important
- rs104894664A;GTTR-related amyloidosisVery important
- rs104894665C;TTTR-related amyloidosisVery important
- rs121918068A;TTTR-related amyloidosisVery important
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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.