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: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0234518
Disease: Slurred speech
Slurred speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0266039
Disease: Taurodontism
Taurodontism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627 		0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs141433484
rs141433484 		1.000 0.080 21 44516312 non coding transcript exon variant C/A;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0013421
Disease: Dystonia
Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C4022010
Disease: Maternal seizures
Maternal seizures 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0457756
Disease: Tooth absent
Tooth absent 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872 		0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0234518
Disease: Slurred speech
Slurred speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016