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: rs886039817
rs886039817 		1.000 4 47403613 missense variant T/C snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.800 0
dbSNP: rs886039818
rs886039818 		1.000 4 47406706 missense variant C/T snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.800 0
dbSNP: rs1159315
rs1159315 		1.000 0.120 4 47001059 intron variant T/C snv 0.46
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12108623
rs12108623 		4 47034968 intron variant T/A snv 0.51
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs148121703
rs148121703 		0.925 0.040 4 47371654 intron variant TGT/- delins 2.6E-03
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs148121703
rs148121703 		0.925 0.040 4 47371654 intron variant TGT/- delins 2.6E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4396968
rs4396968 		1.000 0.080 4 47087167 intron variant T/C snv 0.85
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs7672943
rs7672943 		4 47037529 intron variant T/G snv 0.53
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs1135401786
rs1135401786 		1.000 4 47031990 missense variant C/T snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 0
dbSNP: rs1403522266
rs1403522266 		4 47320137 missense variant A/G snv 4.0E-06
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs2044081
rs2044081 		1.000 0.080 4 47216323 intron variant C/T snv 0.14
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs2044081
rs2044081 		1.000 0.080 4 47216323 intron variant C/T snv 0.14
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2229940
rs2229940 		1.000 0.080 4 46993349 missense variant G/T snv 0.32 0.31
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs2351299
rs2351299 		1.000 0.040 4 47141348 intron variant G/T snv 0.19
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs2351299
rs2351299 		1.000 0.040 4 47141348 intron variant G/T snv 0.19
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs3832300
rs3832300 		1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs3832300
rs3832300 		1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs4482737
rs4482737 		1.000 0.040 4 47320173 missense variant T/C;G snv 0.99; 4.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs4482737
rs4482737 		1.000 0.040 4 47320173 missense variant T/C;G snv 0.99; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 < 0.001 1 2006 2006