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, 1g
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
308 0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 0.700 1.000 3 2012 2015
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
230 0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 0.700 1.000 3 2012 2015
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 0.700 1.000 2 2012 2013
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05 0.700 0