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 MENTAL RETARDATION), TYPE B, 3
CUI: C3150412
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
13 0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 5 2007 2017
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
CUI: C3150417
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
12 0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 5 2007 2017
Muscle eye brain disease
CUI: C0457133
Disease: Muscle eye brain disease
74 0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 4 2007 2013
RETINITIS PIGMENTOSA 76
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
13 0.851 0.120 1 46194860 synonymous variant G/A snv 4.0E-05 2.1E-05 0.700 1.000 4 2007 2013