rs750176716, FKTN

N. diseases: 2
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.
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
43 0.925 0.120 9 105619989 frameshift variant T/- delins 2.0E-05 0.700 1.000 5 2007 2016
Fukuyama Type Congenital Muscular Dystrophy
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
29 0.925 0.120 9 105619989 frameshift variant T/- delins 2.0E-05 0.700 0