KIF4A, kinesin family member 4A, 24137

N. diseases: 50; N. variants: 2
Disease: MENTAL RETARDATION, X-LINKED 100 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555949612
rs1555949612 		1.000 X 70353614 splice acceptor variant TTTTCCAGCA/ATAATGAAAG mnv
CUI: C3890167
Disease: MENTAL RETARDATION, X-LINKED 100
MENTAL RETARDATION, X-LINKED 100 		0.700 0
dbSNP: rs1569234334
rs1569234334 		0.851 0.200 X 70329420 missense variant G/T snv
CUI: C3890167
Disease: MENTAL RETARDATION, X-LINKED 100
MENTAL RETARDATION, X-LINKED 100 		0.700 0