Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1229749476
rs1229749476
SPG7
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162

2012
dbSNP: rs1229749476
rs1229749476
SPG7
G 0.700 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769

2011