rs121908110, FKRP

N. diseases: 4
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 WITHOUT MENTAL RETARDATION), TYPE B, 5
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
4 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 0
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
12 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 1.000 5 2001 2007
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
43 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 1.000 1 2007 2007
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.882 0.160 19 46756837 missense variant A/G snv 1.2E-04 2.1E-05 0.700 0