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: rs1122227
rs1122227 		2 27321418 intron variant C/T snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965 		0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965 		0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965 		0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4665965
rs4665965 		0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs267607259
rs267607259 		1.000 0.160 2 27309958 stop gained G/T snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 2006 2019
dbSNP: rs121909724
rs121909724 		1.000 0.160 2 27312510 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1553383467
rs1553383467 		1.000 0.160 2 27312572 stop gained A/T snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0037763
Disease: Spasm
Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0040264
Disease: Tinnitus
Tinnitus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0