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: rs1558507406
rs1558507406 		1.000 2 49922173 frameshift variant -/CCGT delins
CUI: C3808494
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME
CHROMOSOME 2p16.3 DELETION SYNDROME 		0.700 0
dbSNP: rs199546979
rs199546979 		1.000 0.080 2 50236836 stop gained G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267606922
rs267606922 		1.000 2 50496039 stop gained G/C snv 4.1E-06
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2 		0.700 0
dbSNP: rs1045881
rs1045881 		1.000 0.040 2 49921834 3 prime UTR variant C/T snv 0.15
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs112638127
rs112638127 		1.000 0.040 2 50472460 missense variant T/C snv 4.0E-05 4.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2011 2011
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: rs10187911
rs10187911 		0.882 0.080 2 50420809 intron variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10187911
rs10187911 		0.882 0.080 2 50420809 intron variant C/A;G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10187911
rs10187911 		0.882 0.080 2 50420809 intron variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10490162
rs10490162 		1.000 0.040 2 51020519 intron variant T/C snv 0.14
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
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: rs10490168
rs10490168 		1.000 0.040 2 50908336 intron variant C/T snv 0.26
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
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: rs10865246
rs10865246 		1.000 0.080 2 50443116 intron variant C/A;T snv
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2016 2016
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