KIF14, kinesin family member 14, 9928

N. diseases: 103; N. variants: 10
Disease: MECKEL SYNDROME 12 ×
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: rs786201012
rs786201012 		1.000 1 200603951 frameshift variant CT/- delins 7.0E-06
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.700 0
dbSNP: rs786201013
rs786201013 		1.000 1 200603922 stop gained T/A snv
CUI: C4015701
Disease: MECKEL SYNDROME 12
MECKEL SYNDROME 12 		0.700 0