Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907259
rs387907259
KIF1A
0.700 GeneticVariation UNIPROT Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750

2015
dbSNP: rs387907259
rs387907259
KIF1A
0.700 GeneticVariation UNIPROT De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038

2015
dbSNP: rs387907259
rs387907259
KIF1A
0.700 GeneticVariation UNIPROT De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs387907259
rs387907259
KIF1A
0.700 GeneticVariation UNIPROT Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011