KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: Spastic Paraplegia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045050
rs797045050
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1057518760
rs1057518760
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C0037772
Disease:
Spastic Paraplegia 		T 0.700 GeneticVariation CLINVAR