Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C4022858
Disease: Elevated aldolase level
Elevated aldolase level 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C4310731
Disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201518227
rs201518227
TOR1AIP1
CUI: C0231712
Disease: Waddling gait
Waddling gait 		T 0.700 GeneticVariation CLINVAR