Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865117
rs281865117
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 11788093

2001
dbSNP: rs281865117
rs281865117
SACS
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		T 0.700 CausalMutation CLINVAR ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 10655055

2000