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: rs1064793178
rs1064793178 		1.000 0.160 2 27312494 splice region variant C/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 0.700 0
dbSNP: rs147952488
rs147952488 		1.000 0.160 2 27312992 splice donor variant A/G snv 2.8E-05 1.2E-04
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 0
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
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C0030196
Disease: Pain in limb
Pain in limb 		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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal 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: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 0
dbSNP: rs267607261
rs267607261 		0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		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: C0234146
Disease: Absent reflex
Absent reflex 		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: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		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: C0020580
Disease: Hypesthesia
Hypesthesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0