First is the TRPM6 reference SNP (single nucleotide polymorphism) rs3750425 (G>A; V1393I), associated with meningomyelocele, a tube neural disorder that affects osteogenesis and causes a spina bifida-like phenotype and reduced Mg2+ levels in serum [351] and the homozygous mutation in exon 19 of TRPM6 gene (Chr9: 77407598; C>T; c. Here, TRPM6 is linked to Meningomyelocele.