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: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs1555745467
rs1555745467 		0.752 0.240 19 13262771 missense variant C/A snv
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C0234376
Disease: Action Tremor
Action Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1555745467
rs1555745467 		0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908217
rs121908217 		0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/A snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121908230
rs121908230 		0.882 0.080 19 13262789 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs786200963
rs786200963 		0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs12609735
rs12609735 		1.000 0.040 19 13477702 intron variant T/C snv 0.20
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs7249246
rs7249246 		1.000 0.040 19 13488269 intron variant T/A;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1402027664
rs1402027664 		0.925 0.080 19 13312697 missense variant T/C snv
CUI: C0270860
Disease: Basilar-Type Migraine
Basilar-Type Migraine 		Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2074880
rs2074880 		1.000 0.120 19 13261817 non coding transcript exon variant A/C snv 0.29
CUI: C0155502
Disease: Benign Paroxysmal Positional Vertigo
Benign Paroxysmal Positional Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1164174661
rs1164174661 		0.925 0.120 19 13283358 missense variant T/C snv
CUI: C0338487
Disease: Benign paroxysmal vertigo of childhood
Benign paroxysmal vertigo of childhood 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		Nervous System Diseases 0.700 0
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs121908225
rs121908225 		0.790 0.120 19 13365448 missense variant G/A snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.710 1.000 1 2017 2017