rs1557182317, 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
CUI: C0333068
Disease: Flexion contracture
32 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.925 0.160 X 154379790 frameshift variant -/T delins 0.700 0