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: rs10230087
rs10230087 		1.000 0.040 7 114614352 intron variant G/A snv 0.73
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs121908377
rs121908377 		1.000 0.120 7 114662075 missense variant G/A snv
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		Digestive System Diseases 0.010 1.000 1 2004 2004
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: 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: rs12531289
rs12531289 		1.000 0.040 7 114600061 intron variant T/A snv 0.73
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs12531289
rs12531289 		1.000 0.040 7 114600061 intron variant T/A snv 0.73
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		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: 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: 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: 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: 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: rs5886709
rs5886709 		1.000 0.040 7 114446079 intron variant CT/- delins 0.39
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs62469231
rs62469231 		1.000 0.040 7 114391119 intron variant G/A snv 1.1E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs6980093
rs6980093 		1.000 0.120 7 114522685 intron variant G/A snv 0.67
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
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: rs7783012
rs7783012 		1.000 0.040 7 114476826 intron variant G/A snv 0.65
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7783012
rs7783012 		1.000 0.040 7 114476826 intron variant G/A snv 0.65
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs879253771
rs879253771 		1.000 0.120 7 114652275 frameshift variant CA/- delins
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 2013 2013
dbSNP: rs879253772
rs879253772 		1.000 0.120 7 114659617 missense variant T/C snv
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 2010 2010
dbSNP: rs1135401820
rs1135401820 		1.000 0.120 7 114662188 splice donor variant T/C snv
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: 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