rs727504448, DES

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.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 2 219420116 frameshift variant G/- del 7.0E-06 0.700 1.000 5 2000 2012