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: 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: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0003537
Disease: Aphasia
Aphasia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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: 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: 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: 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: rs11951031
rs11951031 		5 88842914 intron variant C/T snv 3.9E-02
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2013 2013
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
dbSNP: rs11955542
rs11955542 		5 88817411 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
dbSNP: rs11958689
rs11958689 		5 88811036 intron variant C/G snv 3.9E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
dbSNP: rs12515983
rs12515983 		5 88858258 intron variant T/A snv 3.9E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
dbSNP: rs12521522
rs12521522 		5 88816944 intron variant T/A snv 3.8E-02
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2013 2013
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: 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: 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: 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: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
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: 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: 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: 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: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C3279888
Disease: Frontal lobe atrophy
Frontal lobe atrophy 		0.700 0
dbSNP: rs1085307051
rs1085307051 		0.925 0.160 5 88883309 5 prime UTR variant GAGGAGGAGGAAGA/- del
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs869312698
rs869312698 		0.925 0.160 5 88804785 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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