Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772466166
rs772466166
SMN1 ; SMN2
T 0.700 CausalMutation CLINVAR A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. 21542063

2011
dbSNP: rs1554066397
rs1554066397
SMN1 ; SMN2
T 0.700 GeneticVariation CLINVAR