Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554139771
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2007 2016
dbSNP: rs1554139771
rs1554139771
MEF2C
5 88804732 stop gained CA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2007 2016