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.
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
Myopia
CUI: C0027092
Disease: Myopia
167 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 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
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
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 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
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 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
Vertigo
CUI: C0042571
Disease: Vertigo
35 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