rs766648827, POMT1

N. diseases: 3
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 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
21 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
43 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012