NTN1, netrin 1, 9423

N. diseases: 209; N. variants: 16
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: rs4791774
rs4791774 		0.882 0.240 17 9028802 intron variant A/C;G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.710 1.000 2 2015 2019
dbSNP: rs72809988
rs72809988 		17 9083080 intron variant G/A snv 9.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs10468483
rs10468483 		17 9089816 intron variant T/C snv 9.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12944377
rs12944377 		0.882 0.120 17 9044391 intron variant T/C snv 0.36
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.700 1.000 1 2017 2017
dbSNP: rs12944377
rs12944377 		0.882 0.120 17 9044391 intron variant T/C snv 0.36
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12944377
rs12944377 		0.882 0.120 17 9044391 intron variant T/C snv 0.36
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs144460277
rs144460277 		17 9172427 intron variant C/T snv 8.0E-04
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs144460277
rs144460277 		17 9172427 intron variant C/T snv 8.0E-04
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs145787127
rs145787127 		17 9239097 intron variant G/A snv 1.0E-02
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		0.700 1.000 1 2019 2019
dbSNP: rs4791774
rs4791774 		0.882 0.240 17 9028802 intron variant A/C;G snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs62068199
rs62068199 		17 9183391 missense variant T/C snv 0.35 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs8069536
rs8069536 		1.000 0.080 17 9052968 intron variant G/T snv 0.18
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs8076457
rs8076457 		1.000 0.080 17 9040612 intron variant T/A;C snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9909240
rs9909240 		1.000 0.120 17 9236774 intron variant G/A snv 0.50
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs9911652
rs9911652 		0.925 0.120 17 9039746 intron variant C/T snv 0.16
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9911652
rs9911652 		0.925 0.120 17 9039746 intron variant C/T snv 0.16
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9915089
rs9915089 		1.000 0.080 17 9049577 intron variant C/T snv 0.40
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1567749982
rs1567749982 		1.000 17 9239701 inframe deletion ATC/- delins
CUI: C4748869
Disease: MIRROR MOVEMENTS 4
MIRROR MOVEMENTS 4 		0.700 0
dbSNP: rs1567750186
rs1567750186 		1.000 17 9239954 missense variant T/C snv
CUI: C4748869
Disease: MIRROR MOVEMENTS 4
MIRROR MOVEMENTS 4 		0.700 0
dbSNP: rs1567750187
rs1567750187 		1.000 17 9239955 missense variant G/C snv
CUI: C4748869
Disease: MIRROR MOVEMENTS 4
MIRROR MOVEMENTS 4 		0.700 0
dbSNP: rs4791331
rs4791331 		0.925 0.120 17 9028765 intron variant C/T snv 0.53
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs4791331
rs4791331 		0.925 0.120 17 9028765 intron variant C/T snv 0.53
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs4791331
rs4791331 		0.925 0.120 17 9028765 intron variant C/T snv 0.53
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2020 2020
dbSNP: rs4791774
rs4791774 		0.882 0.240 17 9028802 intron variant A/C;G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2019 2019
dbSNP: rs4791774
rs4791774 		0.882 0.240 17 9028802 intron variant A/C;G snv
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017