Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs672601370
rs672601370
KIF1A
A 0.700 CausalMutation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332

2017
dbSNP: rs797045050
rs797045050
KIF1A
T 0.700 CausalMutation CLINVAR A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. 28834584

2017
dbSNP: rs1064793161
rs1064793161
KIF1A
T 0.700 CausalMutation CLINVAR Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. 27034427

2016
dbSNP: rs1064793161
rs1064793161
KIF1A
T 0.700 CausalMutation CLINVAR De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 26354034

2015
dbSNP: rs1064795534
rs1064795534
KIF1A
T 0.700 CausalMutation CLINVAR Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750

2015
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038

2015
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs672601369
rs672601369
KIF1A
T 0.700 CausalMutation CLINVAR De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs672601369
rs672601369
KIF1A
T 0.700 CausalMutation CLINVAR De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 26125038

2015
dbSNP: rs672601370
rs672601370
KIF1A
A 0.700 CausalMutation CLINVAR De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 26354034

2015
dbSNP: rs672601370
rs672601370
KIF1A
A 0.700 CausalMutation CLINVAR De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 25265257

2015
dbSNP: rs786200949
rs786200949
KIF1A
A 0.700 CausalMutation CLINVAR Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. 25585697

2015
dbSNP: rs786200949
rs786200949
KIF1A
A 0.700 CausalMutation CLINVAR Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. 26410750

2015
dbSNP: rs886041692
rs886041692
KIF1A
T 0.700 CausalMutation CLINVAR De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 26354034

2015
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR KIF1A mutation in a patient with progressive neurodegeneration. 25253658

2014
dbSNP: rs1553624714
rs1553624714
KIF1A
G 0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs1553633687
rs1553633687
KIF1A
G 0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs1559477798
rs1559477798
KIF1A
C 0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs1559527796
rs1559527796
KIF1A
T 0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011
dbSNP: rs587778791
rs587778791
KIF1A
C 0.700 CausalMutation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs751051049
rs751051049
KIF1A
T 0.700 GeneticVariation CLINVAR KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. 21820098

2011
dbSNP: rs1559526692
rs1559526692
KIF1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs368078424
rs368078424
KIF1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs748477031
rs748477031
KIF1A
A 0.700 CausalMutation CLINVAR