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: rs12522630
rs12522630 		5 88892550 intron variant G/A snv 4.2E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
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: 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: rs17494872
rs17494872 		5 88897342 intron variant G/A snv 4.2E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
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: rs17558256
rs17558256 		5 88787636 intron variant T/A;C snv
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
dbSNP: rs17560407
rs17560407 		5 88887834 intron variant A/G snv 0.18
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2014 2014
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: rs2067663
rs2067663 		5 88895818 intron variant C/T snv 0.22
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
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
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: 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: rs4521516
rs4521516 		5 88804134 intron variant G/C snv 0.15
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 1 2011 2011
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: 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: 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: rs768570497
rs768570497 		1.000 0.080 5 88722779 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs768570497
rs768570497 		1.000 0.080 5 88722779 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
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: 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: rs797045053
rs797045053 		1.000 5 88804788 missense variant T/C snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C3150700
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 		0.700 1.000 1 2016 2016
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016