rs1557182692, EMD

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.
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
14 0.925 0.120 X 154381106 frameshift variant TCTGG/- del 0.700 1.000 1 1999 1999
Spinal rigidity
CUI: C1858025
Disease: Spinal rigidity
3 0.925 0.120 X 154381106 frameshift variant TCTGG/- del 0.700 1.000 1 1999 1999
X-Linked Emery-Dreifuss Muscular Dystrophy
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
33 0.925 0.120 X 154381106 frameshift variant TCTGG/- del 0.700 1.000 1 1999 1999