The SNPs loci associated with CS genetic susceptibility are: (1) syndromic type: SCD-associated loci include: DLL3, MESP2, LFNG, HES7, TBX6; STD-associated loci include: MESP2; (2) nonsyndromic type: PAX1 polymorphism is associated with CS genetic susceptibility; WNT3A polymorphism has insufficient evidence to be associated with CS genetic susceptibility. This evidence concerns the gene DLL3 and Cowden syndrome 1.