MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Dysmorphic features ×
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: 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