SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: Spinal Muscular Atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217001154
rs1217001154
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 CausalMutation CLINVAR Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population. 20442745 2010