Variant: rs121909505

present in Gene: CHRND present in Chromosome: 2 Position on Chromosome: 232527436 Alleles of this Variant: G/A;C

rs121909505 in CHRND gene and MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE PMID 18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.