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: 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: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: 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: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C0856863
Disease: Broad-based gait
Broad-based gait 		0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C0241237
Disease: Difficulty standing
Difficulty standing 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
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: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		0.700 0
dbSNP: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		0.700 0
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: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
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: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0