Source: CLINVAR ×
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, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
306 0.925 0.160 2 178572564 frameshift variant G/- delins 0.700 1.000 1 2015 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
230 0.925 0.160 2 178572564 frameshift variant G/- delins 0.700 1.000 1 2015 2015
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 0.925 0.160 2 178572564 frameshift variant G/- delins 0.700 0