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: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C4476941
Disease: Impaired toileting ability
Impaired toileting ability 		0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625 		0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587777312
rs587777312 		1.000 16 57639374 5 prime UTR variant CAACGGTTGCCAGGG/-;CAACGGTTGCCAGGGCAACGGTTGCCAGGG delins
CUI: C3810405
Disease: POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE
POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587783653
rs587783653 		1.000 0.080 16 57659568 missense variant T/C snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783654
rs587783654 		1.000 0.080 16 57659616 missense variant T/C snv 1.4E-05
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783655
rs587783655 		1.000 0.080 16 57659641 stop gained T/G snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783656
rs587783656 		1.000 0.080 16 57661882 missense variant G/C snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587783657
rs587783657 		1.000 0.080 16 57663470 stop gained G/A snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045600
rs797045600 		1.000 0.080 16 57657420 frameshift variant C/- delins
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045602
rs797045602 		1.000 0.080 16 57655918 frameshift variant -/TT delins
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908462
rs121908462 		1.000 0.080 16 57651247 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2004 2014
dbSNP: rs587783658
rs587783658 		1.000 0.080 16 57651400 missense variant C/A;T snv 4.0E-06
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs146278035
rs146278035 		0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 2003 2015
dbSNP: rs146278035
rs146278035 		0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2003 2015
dbSNP: rs146278035
rs146278035 		0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2003 2015
dbSNP: rs764367185
rs764367185 		1.000 0.080 16 57651248 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 6 2004 2014