MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
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: rs4521516
rs4521516
5 88804134 intron variant G/C snv 0.15
Platelet mean volume determination (procedure)
0.800 1.000 1 2011 2011
dbSNP: rs700585
rs700585
5 88856300 intron variant C/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 1.000 1 2011 2011
dbSNP: rs1554139723
rs1554139723
1.000 5 88804642 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771
5 88804732 stop gained CA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771
5 88804732 stop gained CA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771
5 88804732 stop gained CA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2007 2016
dbSNP: rs1554139870
rs1554139870
1.000 5 88804798 missense variant T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 10 2007 2016
dbSNP: rs397514655
rs397514655
1.000 5 88804743 missense variant A/G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs397514655
rs397514655
1.000 5 88804743 missense variant A/G;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 10 2007 2016
dbSNP: rs1554150607
rs1554150607
0.925 0.160 5 88823786 start lost C/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
0.700 1.000 4 2009 2013
dbSNP: rs1554150607
rs1554150607
0.925 0.160 5 88823786 start lost C/G snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 4 2009 2013
dbSNP: rs41352752
rs41352752
5 88733391 intron variant T/C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2017 2019
dbSNP: rs61104616
rs61104616
5 88867954 intron variant G/A snv 0.47
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 3 2018 2019
dbSNP: rs2067663
rs2067663
5 88895818 intron variant C/T snv 0.22
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 2 2016 2019
dbSNP: rs2067663
rs2067663
5 88895818 intron variant C/T snv 0.22
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 2 2016 2019
dbSNP: rs770463
rs770463
5 88899133 intron variant C/T snv 0.61
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2018
dbSNP: rs10066711
rs10066711
5 88894787 intron variant A/T snv 0.52
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs10514303
rs10514303
5 88749212 intron variant C/A;G snv 6.1E-02
CUI: C0021704
Disease: Intelligence
Intelligence
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs10514303
rs10514303
5 88749212 intron variant C/A;G snv 6.1E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs1065861
rs1065861
1.000 0.040 5 88796133 intron variant A/G;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs114694170
rs114694170
1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170
1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
Vascular Endothelial Growth Factor Measurement
0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170
1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
Platelet Component Distribution Width Measurement
0.700 1.000 1 2016 2016
dbSNP: rs114694170
rs114694170
1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs11951031
rs11951031
5 88842914 intron variant C/T snv 3.9E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
0.700 1.000 1 2013 2013