NRXN1, neurexin 1, 9378

N. diseases: 20; N. variants: 26
Source: CURATED ×
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: 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: 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: rs1356888
rs1356888 		2 50288880 intron variant T/A;C snv
CUI: C0023980
Disease: Longevity
Longevity 		0.800 1.000 1 2010 2010
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: 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: 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