NRXN3, neurexin 3, 9369

N. diseases: 64; N. variants: 29
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: rs1004212
rs1004212 		14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs1004212
rs1004212 		14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15
CUI: C0549393
Disease: Alcohol problem
Alcohol problem 		0.010 1.000 1 2011 2011
dbSNP: rs724373
rs724373 		0.925 0.120 14 78476555 intron variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs724373
rs724373 		0.925 0.120 14 78476555 intron variant T/A;C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1057519451
rs1057519451 		1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519451
rs1057519451 		1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs531047390
rs531047390 		1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs531047390
rs531047390 		1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs7157669
rs7157669 		0.925 0.120 14 78471334 intron variant C/A snv 9.5E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs7157669
rs7157669 		0.925 0.120 14 78471334 intron variant C/A snv 9.5E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1396618
rs1396618 		14 78825561 intron variant A/C snv 9.9E-02
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2010 2010
dbSNP: rs11849937
rs11849937 		1.000 0.040 14 78645876 intron variant C/T snv 0.11
CUI: C0270496
Disease: Schizoaffective disorder, bipolar type
Schizoaffective disorder, bipolar type 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs11621908
rs11621908 		14 78029418 regulatory region variant C/T snv 0.11
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 2 2019 2019
dbSNP: rs11624704
rs11624704 		1.000 0.080 14 78319734 intron variant A/C snv 0.13
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs11624704
rs11624704 		1.000 0.080 14 78319734 intron variant A/C snv 0.13
CUI: C0549393
Disease: Alcohol problem
Alcohol problem 		0.010 1.000 1 2011 2011
dbSNP: rs11624704
rs11624704 		1.000 0.080 14 78319734 intron variant A/C snv 0.13
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs7154021
rs7154021 		1.000 0.040 14 78759493 intron variant T/C snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs17754467
rs17754467 		1.000 0.080 14 78156180 intergenic variant A/G snv 0.18
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs72690737
rs72690737 		14 79464301 intron variant T/C snv 0.18
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs10136360
rs10136360 		14 79427703 intron variant G/A snv 0.21
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17109221
rs17109221 		14 79443776 intron variant C/T snv 0.21
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017
dbSNP: rs2370982
rs2370982 		14 79424334 intron variant C/T snv 0.21
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs17109256
rs17109256 		14 79473650 intron variant G/A snv 0.21
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2015 2019
dbSNP: rs17109256
rs17109256 		14 79473650 intron variant G/A snv 0.21
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs17109256
rs17109256 		14 79473650 intron variant G/A snv 0.21
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.700 1.000 1 2009 2009