rs781291421, EPM2A

N. diseases: 1
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.
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 1.000 0.040 6 145635468 stop gained C/A;T snv 1.2E-05; 2.8E-05 0.700 1.000 1 2004 2004