Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894490
rs104894490
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary
A 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