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 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 2 2012 2016
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
Muscle eye brain disease
CUI: C0457133
Disease: Muscle eye brain disease
74 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2012 2012
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
CUI: C3150417
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
12 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2012 2012
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
RETINITIS PIGMENTOSA 76
CUI: C4310704
Disease: RETINITIS PIGMENTOSA 76
13 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2012 2012
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016