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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs876661308
rs876661308 		1.000 5 88823780 missense variant T/A snv
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		Mental Disorders 0.700 1.000 1 2016 2016