rs672601363, KIF1A

N. diseases: 6
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 0.851 0.080 2 240788109 missense variant C/T snv 0.800 1.000 4 2011 2015
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0