NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
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: rs1356888
rs1356888 		2 50288880 intron variant T/A;C snv
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
dbSNP: rs1476850082
rs1476850082 		1.000 2 51026369 splice donor variant A/G snv 7.0E-06
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 1.000 3 2009 2014
dbSNP: rs771759988
rs771759988 		1.000 2 51026470 splice acceptor variant C/T snv 9.2E-06 3.5E-05
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 1.000 3 2009 2014
dbSNP: rs1553368900
rs1553368900 		1.000 0.040 2 50925810 splice acceptor variant CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- del
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 2 2012 2013
dbSNP: rs9636391
rs9636391 		2 49973972 missense variant A/G snv 0.85 0.82
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs1014667
rs1014667 		2 50521617 intron variant G/A;C snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs1014667
rs1014667 		2 50521617 intron variant G/A;C snv
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs10174398
rs10174398 		2 50968463 intron variant T/A;C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs10490165
rs10490165 		1.000 0.080 2 50961428 intron variant T/A;C snv
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs10490175
rs10490175 		1.000 0.040 2 50855616 intron variant G/A snv 0.16
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs10490175
rs10490175 		1.000 0.040 2 50855616 intron variant G/A snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs115249811
rs115249811 		2 50699981 intron variant T/C snv 1.5E-03
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs11681792
rs11681792 		1.000 0.080 2 49957256 intron variant C/T snv 0.12
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs11681792
rs11681792 		1.000 0.080 2 49957256 intron variant C/T snv 0.12
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs11681792
rs11681792 		1.000 0.080 2 49957256 intron variant C/T snv 0.12
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2013 2013
dbSNP: rs11681792
rs11681792 		1.000 0.080 2 49957256 intron variant C/T snv 0.12
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2013 2013
dbSNP: rs12476120
rs12476120 		2 50871905 intron variant C/T snv 0.51
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12618157
rs12618157 		1.000 0.080 2 50709898 intron variant A/G snv 0.54
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs141864436
rs141864436 		1.000 0.080 2 50971652 intron variant G/A snv 1.6E-02
CUI: C3894553
Disease: response to simvastatin
response to simvastatin 		0.700 1.000 1 2018 2018
dbSNP: rs141864436
rs141864436 		1.000 0.080 2 50971652 intron variant G/A snv 1.6E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2059308
rs2059308 		2 50629732 intron variant A/G snv 0.55
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2139629
rs2139629 		2 50400459 intron variant A/G snv 0.26
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs41522849
rs41522849 		0.925 0.040 2 50978611 intron variant C/T snv 2.0E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs41522849
rs41522849 		0.925 0.040 2 50978611 intron variant C/T snv 2.0E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6545155
rs6545155 		2 50202723 intron variant T/C snv 0.28
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018