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: rs121917753
rs121917753 		1.000 0.080 2 165373331 missense variant G/A;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 16 2001 2018
dbSNP: rs387906684
rs387906684 		0.851 0.120 2 165367327 stop gained G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 21 2009 2019
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: rs387906686
rs387906686 		0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 20 2009 2019
dbSNP: rs121917751
rs121917751 		0.925 0.080 2 165344666 missense variant G/A 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 17 2001 2018
dbSNP: rs121917752
rs121917752 		0.925 0.080 2 165309414 missense variant G/A 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 17 2001 2018
dbSNP: rs121917748
rs121917748 		0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
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: rs121917749
rs121917749 		1.000 0.080 2 165374700 missense variant C/T 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: rs121917750
rs121917750 		0.925 0.080 2 165386881 missense variant C/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: rs121917754
rs121917754 		1.000 0.080 2 165354279 missense variant C/A 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: 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: rs796053126
rs796053126 		0.925 0.080 2 165354267 stop gained G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 5 2013 2017
dbSNP: rs794727152
rs794727152 		0.925 0.080 2 165342465 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 1.000 4 2013 2017
dbSNP: rs1057519526
rs1057519526 		0.925 0.040 2 165344679 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 0
dbSNP: rs796053124
rs796053124 		0.882 0.080 2 165354232 missense variant G/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 0
dbSNP: rs353116
rs353116 		1.000 0.040 2 165277122 intron variant C/T snv 0.39
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.710 1.000 2 2017 2019
dbSNP: rs1553583712
rs1553583712 		1.000 2 165354339 frameshift variant GA/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 34 1991 2017
dbSNP: rs1553583712
rs1553583712 		1.000 2 165354339 frameshift variant GA/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 2017
dbSNP: rs796053162
rs796053162 		0.882 0.080 2 165389123 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 34 1991 2017
dbSNP: rs1235044536
rs1235044536 		1.000 2 165310331 missense variant A/T snv 4.0E-06
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 20 2009 2019
dbSNP: rs1553463676
rs1553463676 		1.000 2 165389291 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 20 2009 2019
dbSNP: rs794727444
rs794727444 		0.925 0.040 2 165389451 missense variant G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 20 2009 2019
dbSNP: rs886041259
rs886041259 		1.000 2 165386971 stop gained G/A;T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 20 2009 2019
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