NLGN4X, neuroligin 4 X-linked, 57502

N. diseases: 45; N. variants: 18
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: rs12009217
rs12009217 		1.000 0.040 X 6002841 intron variant A/G snv 0.28
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs12845396
rs12845396 		1.000 0.040 X 6111492 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs1569118680
rs1569118680 		0.925 0.080 X 5903423 frameshift variant TC/- delins
CUI: C1845539
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 		0.700 0
dbSNP: rs1569118680
rs1569118680 		0.925 0.080 X 5903423 frameshift variant TC/- delins
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569118853
rs1569118853 		0.925 X 5903492 frameshift variant -/A delins
CUI: C1845334
Disease: ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 		0.700 0
dbSNP: rs1569118853
rs1569118853 		0.925 X 5903492 frameshift variant -/A delins
CUI: C1845539
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 		0.700 0
dbSNP: rs749477993
rs749477993 		1.000 0.080 X 5909225 missense variant C/T snv 1.6E-05 9.5E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs756651509
rs756651509 		1.000 X 6151166 stop gained G/A snv
CUI: C1845539
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 		0.700 0
dbSNP: rs751945904
rs751945904 		0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.020 1.000 2 2011 2019
dbSNP: rs144093574
rs144093574 		1.000 0.040 X 5903545 missense variant T/C snv 3.0E-04 2.8E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs1882260
rs1882260 		1.000 0.040 X 5890820 3 prime UTR variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1882260
rs1882260 		1.000 0.040 X 5890820 3 prime UTR variant G/A snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2009 2009
dbSNP: rs2290488
rs2290488 		1.000 0.040 X 6227814 5 prime UTR variant C/G;T snv 0.30
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 < 0.001 1 2008 2008
dbSNP: rs3747333
rs3747333 		0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs3747333
rs3747333 		0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3747333
rs3747333 		0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3747334
rs3747334 		0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs3747334
rs3747334 		0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3747334
rs3747334 		0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs3810686
rs3810686 		1.000 0.040 X 5892533 3 prime UTR variant C/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3810687
rs3810687 		1.000 0.040 X 5892643 3 prime UTR variant G/T snv 0.11
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs3810688
rs3810688 		1.000 0.040 X 5892715 3 prime UTR variant C/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs5916269
rs5916269 		1.000 0.040 X 5892258 3 prime UTR variant G/A snv 0.15
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs5961397
rs5961397 		1.000 0.080 X 6004425 intron variant A/G snv 0.28
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: rs6638575
rs6638575 		1.000 0.040 X 5894600 intron variant A/G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016