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: rs140992482
rs140992482 		1.000 2 27313058 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		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: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		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
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: rs368900406
rs368900406 		0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		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: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		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: 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: 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: rs267607258
rs267607258 		1.000 0.160 2 27312576 missense variant G/A;T snv 5.6E-05
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 18 2006 2019
dbSNP: rs121909723
rs121909723 		1.000 0.160 2 27313032 missense variant G/A snv 1.2E-05 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 0.800 1.000 17 2006 2019
dbSNP: rs121909721
rs121909721 		1.000 0.160 2 27313031 missense variant C/T snv 1.2E-05
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 16 2006 2019
dbSNP: rs121909722
rs121909722 		1.000 0.160 2 27309945 missense variant 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: rs121909725
rs121909725 		1.000 0.160 2 27322448 missense variant C/A 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 16 2006 2019