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rs372833507

From SNPedia

rs372833507, also known as c.1624C>T and p.Gln542Ter, represents a rare mutation in the IL12RB1 gene on chromosome 19.

Inherited dominantly, the minor allele is reported to increase risk for colorectal cancer. 10.1038/ncomms11883

This variant is also reported (when inherited homozygously or as a compound heterozygote) to cause recessive IL12-Rβ1 deficiency.[PMID 23864330OA-icon.png]