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: 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
dbSNP: rs1569151872
rs1569151872
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
Delayed speech and language development
Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
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: C0266039
Disease: Taurodontism
Taurodontism
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: C0338656
Disease: Impaired cognition
Impaired cognition
Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs1555916009
rs1555916009
1.000 21 44533770 frameshift variant CCAG/- del
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
0.700 0
dbSNP: rs763238933
rs763238933
1.000 0.080 21 44612576 missense variant C/A;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs782543541
rs782543541
1.000 21 44509227 missense variant C/A;T snv 3.2E-05; 1.2E-05; 1.2E-05 1.4E-05
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
0.700 1.000 1 2016 2016
dbSNP: rs782540538
rs782540538
1.000 21 44509225 frameshift variant G/- del 3.2E-05 1.4E-05
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
0.700 0
dbSNP: rs782068174
rs782068174
1.000 0.080 21 44533731 missense variant C/T snv 2.5E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
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