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: rs1561503058
rs1561503058
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 CausalMutation CLINVAR Spinal muscular atrophy. 18572081 2008
dbSNP: rs1561503058
rs1561503058
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 CausalMutation CLINVAR Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. 11839954 2002
dbSNP: rs1561503058
rs1561503058
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		A 0.700 CausalMutation CLINVAR An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). 10679938 2000