rs1564341846, POMT1

N. diseases: 8
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.
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
21 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Quadriparesis
CUI: C0270790
Disease: Quadriparesis
5 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0