rs1559477798, KIF1A

N. diseases: 3
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 0.882 0.080 2 240723560 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
19 0.882 0.080 2 240723560 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
23 0.882 0.080 2 240723560 splice acceptor variant T/C snv 0.700 1.000 1 2011 2011