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: 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: 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: rs1456031
rs1456031
7 114656047 intron variant T/C snv 0.44
CUI: C0008060
Disease: child abuse behavior
child abuse behavior
0.010 1.000 1 2014 2014
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: 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: rs12533005
rs12533005
0.925 0.120 7 114416000 intron variant G/C snv 0.36
Attention deficit hyperactivity disorder
Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs12533005
rs12533005
0.925 0.120 7 114416000 intron variant G/C snv 0.36
CUI: C0476254
Disease: Dyslexia
Dyslexia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
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
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
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: 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: 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: rs121908377
rs121908377
1.000 0.120 7 114662075 missense variant G/A snv
CUI: C0023009
Disease: Speech and language disorder
Speech and language disorder
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.040 1.000 4 2004 2014
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: 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: rs10230087
rs10230087
1.000 0.040 7 114614352 intron variant G/A snv 0.73
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
Mental Disorders 0.010 1.000 1 2014 2014