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.
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
14 0.882 0.120 1 235450286 stop gained G/A snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.882 0.120 1 235450286 stop gained G/A snv 0.020 1.000 2 2015 2017
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.120 1 235450286 stop gained G/A snv 0.010 1.000 1 2015 2015