Rs121913333

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 aka p.R876X (NM_000038.5:c.2626C>T)
 * cosmic=COSM18852
 * EVS=0|71.0|6502
 * CSQT=APC
 * NM_000038.5
 * stop_gained

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