Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601370
rs672601370
KIF1A
A 0.800 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
dbSNP: rs672601370
rs672601370
KIF1A
0.800 GeneticVariation UNIPROT De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs672601370
rs672601370
KIF1A
A 0.800 CausalMutation CLINVAR De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs672601370
rs672601370
KIF1A
0.800 GeneticVariation UNIPROT De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038

2015
dbSNP: rs672601370
rs672601370
KIF1A
A 0.800 CausalMutation CLINVAR De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 26354034

2015
dbSNP: rs672601370
rs672601370
KIF1A
0.800 GeneticVariation UNIPROT Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750

2015
dbSNP: rs672601370
rs672601370
KIF1A
0.800 GeneticVariation UNIPROT Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011
dbSNP: rs672601370
rs672601370
KIF1A
A 0.800 GeneticVariation CLINVAR