rs104894681, FKRP

N. diseases: 10
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, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
12 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.800 1.000 6 2001 2010
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
CUI: C1846672
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
52 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
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 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
CUI: C3150413
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
7 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
CUI: C4016970
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
4 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.700 0
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.020 1.000 2 2018 2018
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
20 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
Coronary Microvascular Disease
CUI: C2827469
Disease: Coronary Microvascular Disease
3 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
CUI: C1852502
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
9 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2018 2018
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.010 1.000 1 2017 2017