rs1554139771, MEF2C

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 5 88804732 stop gained CA/- delins 0.700 1.000 10 2007 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 5 88804732 stop gained CA/- delins 0.700 1.000 10 2007 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 5 88804732 stop gained CA/- delins 0.700 1.000 10 2007 2016