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: rs1085308029
rs1085308029 		1.000 0.120 9 84752019 stop gained G/T snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs121434633
rs121434633 		0.925 0.120 9 84955510 missense variant A/G snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.800 0
dbSNP: rs1324578301
rs1324578301 		1.000 0.080 9 85020233 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		Neoplasms 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4023470
Disease: EEG with continuous slow activity
EEG with continuous slow activity 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4693367
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 		0.800 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C4476723
Disease: Anti-multiple nuclear dots antibody positivity
Anti-multiple nuclear dots antibody positivity 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.700 0
dbSNP: rs886041091
rs886041091 		0.807 0.120 9 84751990 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554774973
rs1554774973 		1.000 0.120 9 84955504 missense variant C/T snv
CUI: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.800 1.000 3 2004 2017
dbSNP: rs1122530
rs1122530 		1.000 0.080 9 84849437 intron variant A/G snv 0.22
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs1187272
rs1187272 		1.000 0.080 9 84789171 intron variant G/A;C snv
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs121434633
rs121434633 		0.925 0.120 9 84955510 missense variant A/G snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007