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: 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: 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: 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: 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: 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: 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: rs12467557
rs12467557 		1.000 0.040 2 51015132 intron variant A/G snv 9.2E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs13382584
rs13382584 		1.000 0.040 2 51020156 intron variant T/C snv 0.27
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs1421589
rs1421589 		1.000 0.080 2 50063015 intron variant A/G;T 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: rs1558852
rs1558852 		1.000 0.040 2 51024999 intron variant A/C;G snv 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2024513
rs2024513 		1.000 0.040 2 50924881 intron variant A/G snv 0.34
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2303298
rs2303298 		1.000 0.040 2 50623548 synonymous variant G/A snv 2.5E-02 1.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs758352860
rs758352860 		1.000 0.040 2 50531232 missense variant T/C snv 8.1E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs768913131
rs768913131 		0.925 0.040 2 50552821 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs768913131
rs768913131 		0.925 0.040 2 50552821 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs768913131
rs768913131 		0.925 0.040 2 50552821 missense variant G/A snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs930752
rs930752 		2 50109355 intron variant C/A snv 0.23
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 1.000 1 2012 2012
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