rs121913333

A SNP in the APC gene on chromosome 5. Its most notable genotype is C;T: Familial Adenomatous Polyposis

Gene
APC
Location
Chr 5112,838,220 (GRCh38)
Highest magnitude
6.5Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.0
  2. C;TMost notableBadFamilial Adenomatous PolyposisVery important · 6.5
  3. T;TBadcancer riskVery important · 5.1

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

Notes

From SNPedia

Show notes, about 150 words

Related to *http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis *https://en.wikipedia.org/wiki/Familial_adenomatous_polyposis Due to variations in the gene APC adenomatous polyposis coli *https://en.wikipedia.org/wiki/Adenomatous_polyposis_coli *http://www.genecards.org/cgi-bin/carddisp.pl?gene=APC The single variant rs121913333 *cosmic=COSM18852 *EVS=0|71.0|6502 *CSQT=APC *NM_000038.5 **stop_gained aka p.R876X (NM_000038.5:c.2626C>T) This is believed to be autosomal dominant, based on descriptions of FAP similar to the abstract of Reported in http://www.nature.com/ncomms/2014/141013/ncomms6191/full/ncomms6191.html (see Table 2; identified as a possible cooperating somatic mutation in a SEM4A-driven colorectal cancer) more specific cases of this variant http://chromium.liacs.nl/LOVD2/colon_cancer/variants.php?select_db=APC&action=search_all&search_Variant%2FDNA=c.2626C%3ET

Source and license

Adapted from rs121913333 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.