Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Consensus statement for standard of care in spinal muscular atrophy. 17761659

2007
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. 14715275

2004
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. 9837824

1998
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. 10732817

1997
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
0.800 GeneticVariation UNIPROT Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). 9158159

1997
dbSNP: rs104893927
rs104893927
SMN1 ; SMN2
C 0.800 CausalMutation CLINVAR