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: rs2248069
rs2248069 		1.000 0.080 19 13334394 synonymous variant C/T snv 0.69 0.64
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16042
rs16042 		1.000 0.080 19 13230223 intron variant G/A snv 0.20 0.16
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs16023
rs16023 		19 13298658 missense variant T/A;C snv 0.14
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs16022
rs16022 		19 13298882 missense variant C/G;T snv 0.13; 4.6E-06
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs41276886
rs41276886 		0.925 0.080 19 13317310 missense variant C/T snv 4.5E-03 4.4E-03
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs41276886
rs41276886 		0.925 0.080 19 13317310 missense variant C/T snv 4.5E-03 4.4E-03
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121908242
rs121908242 		1.000 0.120 19 13298946 missense variant G/A;C snv 5.6E-05; 1.1E-03
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 14 1996 2011
dbSNP: rs763054302
rs763054302 		1.000 0.040 19 13299007 missense variant C/T snv 8.5E-05 4.9E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs763054302
rs763054302 		1.000 0.040 19 13299007 missense variant C/T snv 8.5E-05 4.9E-05
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs774224202
rs774224202 		1.000 0.120 19 13277108 stop gained G/A;C snv 4.8E-05 4.2E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908235
rs121908235 		1.000 0.120 19 13209438 missense variant G/A snv 4.5E-05 6.3E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs768048563
rs768048563 		0.925 0.120 19 13298829 missense variant C/T snv 2.6E-05
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs768048563
rs768048563 		0.925 0.120 19 13298829 missense variant C/T snv 2.6E-05
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs764313309
rs764313309 		1.000 0.040 19 13298935 missense variant C/T snv 1.4E-05
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs886039322
rs886039322 		1.000 0.080 19 13312778 missense variant T/C snv 8.9E-06 7.0E-06
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs886039322
rs886039322 		1.000 0.080 19 13312778 missense variant T/C snv 8.9E-06 7.0E-06
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs121908245
rs121908245 		1.000 0.080 19 13332911 missense variant C/T snv 8.1E-06 7.0E-06
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 1997 2017
dbSNP: rs749309558
rs749309558 		19 13334405 missense variant C/T snv 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121908232
rs121908232 		1.000 0.120 19 13257499 missense variant C/G;T snv 4.3E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs1131691712
rs1131691712 		19 13286952 frameshift variant -/A delins 4.2E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 46 1988 2017
dbSNP: rs1272886269
rs1272886269 		0.925 0.120 19 13335805 splice donor variant C/T snv 4.2E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1272886269
rs1272886269 		0.925 0.120 19 13335805 splice donor variant C/T snv 4.2E-06
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs121908241
rs121908241 		1.000 0.120 19 13299243 missense variant A/G snv 4.1E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011
dbSNP: rs1315533129
rs1315533129 		1.000 0.120 19 13285067 splice donor variant C/A;T snv 4.1E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908234
rs121908234 		1.000 0.120 19 13257466 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 1.000 15 1996 2011