rs398124245, POMT1

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, LIMB-GIRDLE, TYPE 2K
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
15 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 1.000 6 2002 2014
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
21 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 1.000 6 2002 2014
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
43 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 1.000 6 2002 2014
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
16 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 0