rs1563083759, TNPO3

N. diseases: 6
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.
Difficulty running
CUI: C0560346
Disease: Difficulty running
3 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
3 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
Pelvic girdle weakness
CUI: C0427064
Disease: Pelvic girdle weakness
2 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0
Shoulder girdle weakness
CUI: C0427063
Disease: Shoulder girdle weakness
4 0.925 0.120 7 128957260 frameshift variant G/- del 0.700 0