Variant: rs12170597

present in Gene: CELSR1 present in Chromosome: 22 Position on Chromosome: 46534853 Alleles of this Variant: G/A

rs12170597 in CELSR1 gene and NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO PMID 22095531 2012 Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis.