rs672601367, KIF1A

N. diseases: 7
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 240785066 missense variant T/G snv 0.800 1.000 4 2011 2015
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
Peripheral axonal neuropathy
CUI: C1263857
Disease: Peripheral axonal neuropathy
12 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0