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: 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: 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: rs886037944
rs886037944 		1.000 19 13455205 missense variant C/G snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 2 2016 2016
dbSNP: rs886037946
rs886037946 		1.000 19 13257421 missense variant C/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.800 1.000 2 2016 2016
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: 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: 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: rs1064794261
rs1064794261 		1.000 19 13231717 missense variant G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs1555757432
rs1555757432 		1.000 19 13303574 missense variant T/G snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs267606696
rs267606696 		1.000 19 13230158 stop gained G/A;C;T snv 4.0E-06
CUI: C4016713
Disease: EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
EPISODIC ATAXIA, TYPE 2, AND EPILEPSY 		0.700 0
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: 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: 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: 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: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
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: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
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