FOXP2, forkhead box P2, 93986

N. diseases: 165; N. variants: 32
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: rs17137004
rs17137004 		1.000 0.040 7 114389196 intron variant A/G snv 0.38
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17137004
rs17137004 		1.000 0.040 7 114389196 intron variant A/G snv 0.38
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2253478
rs2253478 		0.925 0.040 7 114337941 intron variant A/G snv 0.58
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs2253478
rs2253478 		0.925 0.040 7 114337941 intron variant A/G snv 0.58
CUI: C0233720
Disease: Poverty of speech
Poverty of speech 		0.010 1.000 1 2010 2010
dbSNP: rs10228350
rs10228350 		1.000 0.040 7 114420608 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs10228350
rs10228350 		1.000 0.040 7 114420608 intron variant A/G;T snv
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17374201
rs17374201 		1.000 0.080 7 114574065 intron variant A/T snv 8.4E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs201649896
rs201649896 		1.000 0.120 7 114426561 missense variant A/T snv 4.3E-04 3.3E-04
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2005 2005
dbSNP: rs761316361
rs761316361 		1.000 0.120 7 114629883 inframe insertion ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA delins 6.3E-05
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2005 2005
dbSNP: rs2396753
rs2396753 		0.925 0.160 7 114508276 intron variant C/A;G snv
CUI: C0018524
Disease: Hallucinations
Hallucinations 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs2396753
rs2396753 		0.925 0.160 7 114508276 intron variant C/A;G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs2396753
rs2396753 		0.925 0.160 7 114508276 intron variant C/A;G snv
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006
dbSNP: rs1350135
rs1350135 		1.000 0.040 7 114602621 intron variant C/A;G;T snv
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1350135
rs1350135 		1.000 0.040 7 114602621 intron variant C/A;G;T snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1229761
rs1229761 		1.000 0.040 7 114583668 intron variant C/A;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs1178491246
rs1178491246 		1.000 0.120 7 114658225 stop gained C/A;T snv 4.0E-06
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs2061183
rs2061183 		1.000 0.040 7 114617959 intron variant C/G snv 0.73
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs2061183
rs2061183 		1.000 0.040 7 114617959 intron variant C/G snv 0.73
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1229762
rs1229762 		7 114578527 intron variant C/G;T snv 0.73
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
dbSNP: rs1476535
rs1476535 		0.925 0.040 7 114430980 intron variant C/G;T snv
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.700 1.000 1 2019 2019
dbSNP: rs1476535
rs1476535 		0.925 0.040 7 114430980 intron variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs121908378
rs121908378 		1.000 0.120 7 114642616 stop gained C/T snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.710 1.000 2 2005 2012
dbSNP: rs121908378
rs121908378 		1.000 0.120 7 114642616 stop gained C/T snv
CUI: C0023009
Disease: Speech and language disorder
Speech and language disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2006 2006
dbSNP: rs12705959
rs12705959 		7 114358191 intron variant C/T snv 0.39
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2015 2015
dbSNP: rs12705959
rs12705959 		7 114358191 intron variant C/T snv 0.39
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2015 2015