rs76992529

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

Gene
TTR
Location
Chr 1831,598,655 (GRCh38)
Highest magnitude
5.5Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;ABadTTR-related cardiac amyloidosisVery important · 5.0
  2. A;GMost notableBadTTR-related amyloidosisVery important · 5.5
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other TTR SNPs

All TTR SNPs

Notes

From SNPedia

Show notes, about 230 words

rs76992529, also known as V122I, Val122Ile, V142I or Val142Ile, is a mutation in the transthyretin TTR gene. This risk allele for this SNP, rs76992529(A), is found primarily in people of African ancestry, and may be found in up to 4% of African-Americans. A person with one or two copies of the (A) allele of this SNP is at significantly higher (by about 2 - 3 fold) risk of developing cardiac amyloidosis, in which levels of the transthyretin protein build up and can lead to heart failure, especially with increasing age. This SNP is also known as i3002759 and i6019130 within 23andMe data. Letter: Diagnosis of neuronal ceroid lipofuscinosis by electron microscopy of urinary sediment. Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant. The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis. Medical errors on an inpatient neurology service. The hereditary amyloidoses. Genetic microheterogeneity of human transthyretin detected by IEF.

A;A

A person with one or two copies of the (A) allele of this SNP is at significantly higher (by about 2 - 3 fold) risk of developing cardiac amyloidosis, in which levels of the transthyretin protein build up and may lead to heart failure, especially with increasing age.

Source and license

Adapted from rs76992529 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.