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: rs11085835
rs11085835 		1.000 0.040 19 13221196 intron variant T/A;C snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
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: 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: rs4926244
rs4926244 		1.000 0.040 19 13264099 intron variant T/C snv 0.21
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		Eye Diseases 0.710 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: 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: rs1568473233
rs1568473233 		0.925 0.120 19 13262790 stop gained 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 2 2012 2012
dbSNP: rs1568473233
rs1568473233 		0.925 0.120 19 13262790 stop gained G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 2 2012 2012
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
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: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0585544
Disease: Downbeat nystagmus
Downbeat nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2015 2015
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: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained 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 1 2015 2015
dbSNP: rs121909324
rs121909324 		0.851 0.160 19 13255217 stop gained 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 1 1999 1999
dbSNP: rs1568440440
rs1568440440 		0.925 0.120 19 13228767 stop gained GT/- delins
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 1.000 1 2016 2016
dbSNP: rs1568440440
rs1568440440 		0.925 0.120 19 13228767 stop gained GT/- delins
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 1 2016 2016
dbSNP: rs121909324
rs121909324 		0.851 0.160 19 13255217 stop gained G/A 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 0
dbSNP: rs121909324
rs121909324 		0.851 0.160 19 13255217 stop gained G/A snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121909324
rs121909324 		0.851 0.160 19 13255217 stop gained G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs1555743942
rs1555743942 		0.925 0.120 19 13257514 stop gained G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs1555743942
rs1555743942 		0.925 0.120 19 13257514 stop gained 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 0