Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs912983346
rs912983346
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary
C 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017