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Bloom syndrome

From SNPedia

Bloom syndrome Wikipedia is a rare inherited disease that is found more often in Ashkenazi Jews than in other populations. One feature of Bloom syndrome is a high risk of cancer. Bloom syndrome is sometimes considered a disease of premature or accelerated aging. Wikipedia

More than 60 different mutations in the BLM gene can cause Bloom syndrome if a child inherits two copies of the same mutation, one from each parent. Carriers are not affected. About 1 percent of Ashkenazi Jews carry a particular mutation that is tested by 23andMe (i4000396, also known as rs113993962). The BLM(Ash) variant was found to increase risk of colon cancer in Ashkenazi Jews.

OMIM lists the SNPs rs113993962, rs367543035, and rs137853153 as connected with Bloom syndrome.