Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10405178
rs10405178
19 19064943 intron variant T/G snv 2.5E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs10405178
rs10405178
19 19064943 intron variant T/G snv 2.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C4476567
Disease: Reduced brain choline level by MRS
Reduced brain choline level by MRS
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C4022160
Disease: Motheaten muscle fibers
Motheaten muscle fibers
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia
Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
Nervous System Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
Restrictive deficit on pulmonary function testing
Respiratory Tract Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0041105
Disease: Trismus
Trismus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C3806347
Disease: Hyperhomocystinemia
Hyperhomocystinemia
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
Reduced brain N-acetyl aspartate level by MRS
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
Progressive sensorineural hearing impairment
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0086769
Disease: Panic Attacks
Panic Attacks
Mental Disorders 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
0.700 0
dbSNP: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit
0.700 0
dbSNP: rs864321624
rs864321624
19 19110790 missense variant A/G snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0