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: rs121908246
rs121908246 		1.000 0.120 19 13308123 missense variant C/A;T snv
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: 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: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.830 1.000 13 1996 2018
dbSNP: rs121908213
rs121908213 		1.000 0.080 19 13303580 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 12 1996 2017
dbSNP: rs121908214
rs121908214 		0.925 0.080 19 13230185 missense variant T/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 12 1996 2017
dbSNP: rs121908211
rs121908211 		0.882 0.080 19 13371744 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.810 1.000 11 1996 2017
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.820 1.000 11 1996 2017
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908218
rs121908218 		0.925 0.080 19 13303576 missense variant G/A;C;T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908219
rs121908219 		1.000 0.080 19 13261552 missense variant T/C snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908220
rs121908220 		0.925 0.120 19 13235685 missense variant G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908221
rs121908221 		1.000 0.080 19 13235637 missense variant A/G snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908222
rs121908222 		1.000 0.080 19 13371735 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908223
rs121908223 		0.925 0.080 19 13262823 missense variant T/C snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908224
rs121908224 		1.000 0.080 19 13235262 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 1996 2017
dbSNP: rs121908230
rs121908230 		0.882 0.080 19 13262789 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908237
rs121908237 		1.000 0.080 19 13259589 missense variant C/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 8 1996 2017
dbSNP: rs121908215
rs121908215 		0.882 0.160 19 13359707 missense variant C/T snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 1997 2017
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 8 1997 2017
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: rs121908247
rs121908247 		0.851 0.160 19 13235693 missense variant C/T snv
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: rs1568457080
rs1568457080 		0.925 0.120 19 13245181 splice donor variant C/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 5 1999 2016
dbSNP: rs1568457080
rs1568457080 		0.925 0.120 19 13245181 splice donor variant C/A snv
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 5 1999 2016
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.040 1.000 4 2008 2019