rs121912664

A SNP in the TP53 gene on chromosome 17. Its most notable genotype is C;T: Li-Fraumeni Syndrome (predicted)

Gene
TP53
Location
Chr 177,670,699 (GRCh38)
Highest magnitude
7.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadLi-Fraumeni Syndrome (predicted)Very important · 7.0
  2. C;GBadLi-Fraumeni Syndrome (predicted)Very important · 7.0
  3. C;CGoodcommon in clinvarTypical · 0.0
  4. A;CBadLi-Fraumeni Syndrome (predicted)Very important · 7.0

SNPedia records rs121912664 on the minus strand: (A;G), (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other TP53 SNPs

All TP53 SNPs

Notes

From SNPedia

Show notes, about 120 words

While Li-Fraumeni syndrome is typically a rare disorder, a founder effect has resulted in 1 person in 375 from Southern Brazil carrying the R337H variant. Thus, unexpectedly, upwards of 300,000 Brazilians might be affected by this otherwise rare disease. Broad, voluntary newborn screening found 0.27% of newborns were carriers in the Southern Brazilian state of Paraná. dbsnp reports from Exac that the disease genotype is exceptionally rare. (T=0.000009/1) However, the Brazilian frequency of the T genotype is 300 times higher. On closer examination, Exac actually reports that from a sample of ethnic groups from all over the world representing over 100,000 alleles only 1 carried the R337H variant. This single carrier was of Latino heritage.

Source and license

Adapted from rs121912664 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.