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: 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: 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: 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: 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: rs1356888
rs1356888 		2 50288880 intron variant T/A;C snv
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
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: 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: 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
dbSNP: rs7603103
rs7603103 		2 51118669 intron variant A/G snv 0.24
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs930295
rs930295 		2 50006214 intron variant A/C snv 0.89
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: rs6754640
rs6754640 		2 50504180 intron variant G/A;T snv
CUI: C0039474
Disease: Temperament
Temperament 		Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs7557525
rs7557525 		2 51023367 intron variant T/C snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
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