Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909192
rs121909192
SMN2
0.030 GeneticVariation BEFREE We identified and characterized the rare variant c.859G>C (p.Gly287Arg) in exon 7 in both SMN2 copies of a male patient affected with type III SMA, a milder form of the disease rarely associated with only two SMN2 copies. 19953646

2010
dbSNP: rs121909192
rs121909192
SMN2
0.030 GeneticVariation BEFREE The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. 20577007

2010
dbSNP: rs121909192
rs121909192
SMN2
0.030 GeneticVariation BEFREE This demonstrates that the c.859G>C substitution is a positive modifier of the SMA phenotype and that not all SMN2 genes are equivalent. 19716110

2009