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: 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
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
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: 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: rs1422189
rs1422189 		5 88746202 intron variant G/A snv 0.10
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1561824498
rs1561824498 		1.000 0.040 5 88752044 splice acceptor variant C/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs186783371
rs186783371 		5 88766406 non coding transcript exon variant A/T snv 7.4E-03
CUI: C4048548
Disease: Anti-Mullerian Hormone Measurement
Anti-Mullerian Hormone Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3850651
rs3850651 		5 88885292 intron variant T/A;C;G snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs62380364
rs62380364 		5 88811520 intron variant C/A snv 0.36
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs796052733
rs796052733 		1.000 0.040 5 88731773 stop gained G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2019 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: rs1266613767
rs1266613767 		1.000 5 88751929 missense variant C/T snv
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 1.000 1 2018 2018
dbSNP: rs17551090
rs17551090 		5 88741392 intron variant T/A snv 7.4E-02
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3047819
rs3047819 		1.000 0.040 5 88879383 intron variant TATA/-;TA;TATATA delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs34316
rs34316 		5 88719728 3 prime UTR variant A/C snv 0.50
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs606393
rs606393 		5 88762346 intron variant T/C snv 0.48
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs796052728
rs796052728 		1.000 0.080 5 88823746 missense variant G/A snv
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs796052728
rs796052728 		1.000 0.080 5 88823746 missense variant G/A snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9986272
rs9986272 		5 88824509 intron variant C/T snv 4.4E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs114694170
rs114694170 		1.000 0.040 5 88884379 non coding transcript exon variant T/C snv 3.6E-02
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs254779
rs254779 		5 88723812 intron variant T/C snv 0.46
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017