rs387906799, KIF1A

N. diseases: 19
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
37 0.742 0.200 2 240788118 missense variant G/A snv 0.800 1.000 5 2011 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 4 2011 2015
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
23 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 4 2011 2015
Atrophy of corpus callosum
CUI: C0431370
Disease: Atrophy of corpus callosum
2 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Cerebellar atrophy, progressive
CUI: C1864929
Disease: Cerebellar atrophy, progressive
1 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Hypsarrhythmia
CUI: C0684276
Disease: Hypsarrhythmia
7 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
PEHO syndrome
CUI: C1850055
Disease: PEHO syndrome
6 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Profound intellectual disabilities
CUI: C3161330
Disease: Profound intellectual disabilities
10 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.742 0.200 2 240788118 missense variant G/A snv 0.010 1.000 1 2014 2014
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.742 0.200 2 240788118 missense variant G/A snv 0.010 1.000 1 2014 2014