CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
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: rs802568
rs802568 		0.925 0.040 7 146262151 intron variant T/G snv 0.17
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs802568
rs802568 		0.925 0.040 7 146262151 intron variant T/G snv 0.17
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs10255956
rs10255956 		7 148173377 intron variant G/A snv 0.22
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs114360492
rs114360492 		1.000 0.080 7 146252937 intron variant C/T snv 1.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs117834366
rs117834366 		0.925 0.120 7 147937799 intron variant G/A snv 1.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs117834366
rs117834366 		0.925 0.120 7 147937799 intron variant G/A snv 1.2E-02
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular 		Nervous System Diseases; Mental Disorders; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1396313317
rs1396313317 		1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1554490549
rs1554490549 		1.000 0.120 7 147485951 stop gained TG/- delins
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1718101
rs1718101 		1.000 0.040 7 146425696 intron variant T/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs190748049
rs190748049 		7 146721168 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2530313
rs2530313 		0.925 0.040 7 148415142 intron variant T/C snv 0.95
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2530313
rs2530313 		0.925 0.040 7 148415142 intron variant T/C snv 0.95
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34088420
rs34088420 		7 146163479 intron variant A/C snv 0.14
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs34438057
rs34438057 		7 146185732 intron variant T/C snv 0.13
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs34930172
rs34930172 		7 146139109 intron variant G/A snv 0.12
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs369675346
rs369675346 		1.000 0.040 7 147120974 splice region variant C/A;T snv 8.0E-06; 2.7E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs398124268
rs398124268 		1.000 0.120 7 147903619 stop gained G/A;T snv 4.0E-06
CUI: C2750246
Disease: Pitt-Hopkins-Like Syndrome 1
Pitt-Hopkins-Like Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4549702
rs4549702 		7 148203924 intron variant C/G snv 0.40
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs4549702
rs4549702 		7 148203924 intron variant C/G snv 0.40
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs540694424
rs540694424 		1.000 0.040 7 146650935 intron variant G/C;T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6944674
rs6944674 		7 147979788 intron variant G/A snv 0.45
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs73453125
rs73453125 		7 146387481 intron variant G/A snv 2.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs758630057
rs758630057 		1.000 0.040 7 148147587 missense variant G/A snv 4.7E-04 4.7E-04
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs802524
rs802524 		7 146254550 intron variant T/C;G snv
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.700 1.000 1 2010 2010
dbSNP: rs802524
rs802524 		7 146254550 intron variant T/C;G snv
CUI: C0004936
Disease: Mental disorders
Mental disorders 		Mental Disorders 0.700 1.000 1 2010 2010