Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141760116
rs141760116
SMN1 ; SMN2
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
SMN1 ; SMN2
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
SMN1 ; SMN2
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
SMN1 ; SMN2
G 0.700 GeneticVariation CLINVAR A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches. 18155522

2008