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: rs1553568927
rs1553568927 		0.925 0.080 2 165313919 frameshift variant -/A delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553568927
rs1553568927 		0.925 0.080 2 165313919 frameshift variant -/A delins
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553461662
rs1553461662 		0.925 0.080 2 165377611 frameshift variant -/T delins
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553461662
rs1553461662 		0.925 0.080 2 165377611 frameshift variant -/T delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553583659
rs1553583659 		0.925 0.080 2 165354306 frameshift variant A/- delins
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553583659
rs1553583659 		0.925 0.080 2 165354306 frameshift variant A/- delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs587780450
rs587780450 		1.000 0.080 2 165354646 frameshift variant A/- del
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs767224097
rs767224097 		1.000 0.080 2 165388729 missense variant A/C snv 4.0E-06
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 15 2001 2018
dbSNP: rs387906685
rs387906685 		0.925 0.040 2 165380702 missense variant A/C;G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 20 2009 2019
dbSNP: rs387906685
rs387906685 		0.925 0.040 2 165380702 missense variant A/C;G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs796053183
rs796053183 		1.000 2 165314014 missense variant A/C;G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553463119
rs1553463119 		1.000 0.080 2 165386960 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 16 2001 2018
dbSNP: rs387906687
rs387906687 		1.000 0.080 2 165310379 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 16 2001 2018
dbSNP: rs12619604
rs12619604 		2 165292171 intron variant A/G snv 0.23
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2304016
rs2304016 		0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2304016
rs2304016 		0.925 0.040 2 165311993 intron variant A/G snv 1.2E-02 4.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs3943809
rs3943809 		0.925 0.080 2 165344371 intron variant A/G snv 0.20
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3943809
rs3943809 		0.925 0.080 2 165344371 intron variant A/G snv 0.20
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs61051952
rs61051952 		2 165291814 intron variant A/G snv 0.23
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs771844443
rs771844443 		1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs771844443
rs771844443 		1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs771844443
rs771844443 		1.000 0.040 2 165309194 missense variant A/G snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs796053150
rs796053150 		1.000 0.040 2 165386827 missense variant A/G snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs796053150
rs796053150 		1.000 0.040 2 165386827 missense variant A/G snv
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs796053150
rs796053150 		1.000 0.040 2 165386827 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018