rs28937900, FKRP

N. diseases: 37
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.
Chronic fatigue
CUI: C0518656
Disease: Chronic fatigue
2 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Exercise-induced myoglobinuria
CUI: C1845155
Disease: Exercise-induced myoglobinuria
2 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Hyperextensible skin of face
CUI: C4024883
Disease: Hyperextensible skin of face
2 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Postural hypotension with compensatory tachycardia
CUI: C1850438
Disease: Postural hypotension with compensatory tachycardia
2 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Muscle degeneration
CUI: C0234958
Disease: Muscle degeneration
3 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.010 1.000 1 2018 2018
Elevated aldolase level
CUI: C4022858
Disease: Elevated aldolase level
3 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Winged scapula
CUI: C0240953
Disease: Winged scapula
3 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Difficulty walking up stairs
CUI: C0239067
Disease: Difficulty walking up stairs
7 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Intolerant of heat
CUI: C0231274
Disease: Intolerant of heat
7 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 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 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Palpitations
CUI: C0030252
Disease: Palpitations
7 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Paresthesia
CUI: C0030554
Disease: Paresthesia
8 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
12 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.710 1.000 1 2001 2001
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Tinnitus
CUI: C0040264
Disease: Tinnitus
14 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 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 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
25 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.730 1.000 24 2001 2018
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
40 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.010 1.000 1 2003 2003
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
40 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.010 1.000 1 2003 2003