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: rs121908464
rs121908464 		1.000 0.080 16 57661707 missense variant C/T snv 8.1E-06 2.8E-05
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 7 2004 2017
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: rs121908463
rs121908463 		1.000 0.080 16 57656244 missense variant T/A snv
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: rs121908465
rs121908465 		1.000 0.080 16 57651407 missense variant G/C snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2004 2014
dbSNP: rs121908466
rs121908466 		1.000 0.080 16 57651398 missense variant A/G snv
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: rs556518689
rs556518689 		1.000 0.080 16 57659594 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 6 2004 2014
dbSNP: rs142684762
rs142684762 		1.000 16 57659478 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2003 2015
dbSNP: rs142684762
rs142684762 		1.000 16 57659478 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2003 2015
dbSNP: rs142684762
rs142684762 		1.000 16 57659478 missense variant A/G snv
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: 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
dbSNP: rs11859370
rs11859370 		1.000 0.080 16 57619621 intron variant T/G snv 8.4E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11863709
rs11863709 		1.000 0.080 16 57620664 intron variant C/T snv 3.4E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs786204777
rs786204777 		1.000 0.080 16 57650297 stop gained C/T snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs146278035
rs146278035 		0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567782714
rs1567782714 		0.882 0.120 16 57655528 stop gained C/T snv
CUI: C1847352
Disease: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567782714
rs1567782714 		0.882 0.120 16 57655528 stop gained C/T snv
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567782714
rs1567782714 		0.882 0.120 16 57655528 stop gained C/T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567782714
rs1567782714 		0.882 0.120 16 57655528 stop gained C/T snv
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567782714
rs1567782714 		0.882 0.120 16 57655528 stop gained C/T snv
CUI: C4022908
Disease: Cerebral white matter hypoplasia
Cerebral white matter hypoplasia 		0.700 0
dbSNP: rs1567815105
rs1567815105 		0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1567815105
rs1567815105 		0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1567815105
rs1567815105 		0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0