KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs548204329
rs548204329
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
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
dbSNP: rs786200949
rs786200949
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		A 0.700 CausalMutation CLINVAR