rs879253888, KIF1A

N. diseases: 5
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.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.851 0.120 2 240783777 missense variant G/A snv 0.700 1.000 15 2011 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
37 0.851 0.120 2 240783777 missense variant G/A snv 0.700 0
Neuropathy, Hereditary Sensory And Autonomic, Type IIA
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
28 0.851 0.120 2 240783777 missense variant G/A snv 0.700 0
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
19 0.851 0.120 2 240783777 missense variant G/A snv 0.700 0
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
23 0.851 0.120 2 240783777 missense variant G/A snv 0.700 0