Variant: rs1217001154

present in Gene: SMN2;SMN1 present in Chromosome: 5 Position on Chromosome: 70951940 Alleles of this Variant: G/A

rs1217001154 in SMN2;SMN1 gene and Spinal Muscular Atrophy PMID 20442745 2010 Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.