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: rs141760116
rs141760116
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		T 0.700 GeneticVariation CLINVAR [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. 26606804 2015
dbSNP: rs141760116
rs141760116
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		G 0.700 GeneticVariation CLINVAR [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1]. 26606804 2015
dbSNP: rs141760116
rs141760116
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		G 0.700 GeneticVariation CLINVAR Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. 19050931 2009
dbSNP: rs141760116
rs141760116
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		G 0.700 GeneticVariation CLINVAR A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. 18155522 2008