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: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 46 1988 2017
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774 		1.000 19 13298827 stop gained G/A;C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774 		1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091 		1.000 19 13298847 frameshift variant -/A ins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945 		0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945 		0.827 0.160 19 13303584 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 46 1988 2017
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/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 0.800 1.000 22 1996 2017
dbSNP: rs121908227
rs121908227 		1.000 0.120 19 13261495 missense variant A/C snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.810 1.000 16 1996 2014
dbSNP: rs121908215
rs121908215 		0.882 0.160 19 13359707 missense variant C/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 0.800 1.000 15 1996 2011
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/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 0.800 1.000 15 1996 2011
dbSNP: rs121908226
rs121908226 		0.925 0.120 19 13231847 missense variant C/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 0.810 1.000 15 1996 2011
dbSNP: rs121908228
rs121908228 		1.000 0.120 19 13365344 missense variant G/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 0.800 1.000 15 1996 2011
dbSNP: rs121908229
rs121908229 		1.000 0.120 19 13234966 missense variant T/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 0.710 1.000 15 1996 2011
dbSNP: rs121908231
rs121908231 		1.000 0.120 19 13365335 missense variant A/G 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: rs121908233
rs121908233 		1.000 0.120 19 13257474 missense variant A/G snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908236
rs121908236 		0.925 0.160 19 13359724 missense variant C/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 0.800 1.000 15 1996 2011
dbSNP: rs121908238
rs121908238 		1.000 0.120 19 13365358 missense variant T/C snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.710 1.000 15 1996 2011
dbSNP: rs121908239
rs121908239 		1.000 0.120 19 13334411 missense variant G/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 15 1996 2011
dbSNP: rs121908243
rs121908243 		1.000 0.120 19 13235649 missense variant G/A snv 7.0E-06
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 15 1996 2011
dbSNP: rs121908244
rs121908244 		1.000 0.120 19 13228722 missense variant A/G 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: 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: 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