rs201518227, TOR1AIP1

N. diseases: 13
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.
Abnormal lactate dehydrogenase activity
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
1 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Creatine phosphokinase serum increased
CUI: C0241005
Disease: Creatine phosphokinase serum increased
43 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Dyspnea on exertion
CUI: C0231807
Disease: Dyspnea on exertion
3 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Elevated aldolase level
CUI: C4022858
Disease: Elevated aldolase level
3 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Elevated hepatic transaminase
CUI: C1848701
Disease: Elevated hepatic transaminase
9 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
EMG: myopathic abnormalities
CUI: C4021726
Disease: EMG: myopathic abnormalities
16 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Muscle fiber atrophy
CUI: C0333751
Disease: Muscle fiber atrophy
2 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
CUI: C4310731
Disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
1 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Respiratory insufficiency due to muscle weakness
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
3 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
Waddling gait
CUI: C0231712
Disease: Waddling gait
8 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0