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: 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