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: rs121908377
rs121908377 		1.000 0.120 7 114662075 missense variant G/A snv
CUI: C0750927
Disease: Apraxia, Developmental Verbal
Apraxia, Developmental Verbal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.810 1.000 3 2001 2017
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: rs1554412300
rs1554412300 		7 114534645 stop gained T/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 9 1990 2017
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: rs10953765
rs10953765 		7 114651380 intron variant G/A snv 0.45
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2017 2017
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: 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
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: rs1668331
rs1668331 		7 114232880 intron variant T/A;G snv
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		0.700 1.000 1 2019 2019
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: rs2100249
rs2100249 		7 114208442 intron variant G/T snv 0.36
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2189012
rs2189012 		0.925 0.040 7 114571857 intron variant G/A snv 0.73
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs2189012
rs2189012 		0.925 0.040 7 114571857 intron variant G/A snv 0.73
CUI: C3160814
Disease: Cannabis use
Cannabis use 		0.700 1.000 1 2019 2019
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: 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