Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561498701
rs1561498701
AGGATTCCG 0.700 CausalMutation CLINVAR A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. 24498607

2013

dbSNP: rs1561500885
rs1561500885
C 0.700 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649

2007