rs672601369, KIF1A

N. diseases: 10
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 0.790 0.120 2 240783780 missense variant C/T snv 0.800 1.000 4 2011 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
19 0.790 0.120 2 240783780 missense variant C/T snv 0.700 1.000 2 2015 2015
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
23 0.790 0.120 2 240783780 missense variant C/T snv 0.700 1.000 2 2015 2015
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
35 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0