Gene: MEF2C ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554139723
rs1554139723
MEF2C
1 1.000 5 88804642 frameshift variant A/- del 0.700 1.000 10 2007 2016
dbSNP: rs1554139870
rs1554139870
MEF2C
1 1.000 5 88804798 missense variant T/A snv 0.700 1.000 10 2007 2016