rs786200949, KIF1A

N. diseases: 4
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
37 0.851 0.120 2 240788208 missense variant G/A snv 0.700 1.000 2 2015 2015
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
19 0.851 0.120 2 240788208 missense variant G/A snv 0.700 1.000 2 2015 2015
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
23 0.851 0.120 2 240788208 missense variant G/A snv 0.700 1.000 2 2015 2015
Spastic Paraplegia, Hereditary
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
41 0.851 0.120 2 240788208 missense variant G/A snv 0.700 0