Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs770661102
rs770661102
SPG7
0.010 GeneticVariation BEFREE Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family. 31117107

2019
dbSNP: rs61755320
rs61755320
SPG7
0.010 GeneticVariation BEFREE One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c.1529C > T, p.Ala510Val). 27557734

2017