rs104893950, EPM2A

N. diseases: 2
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.
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
32 0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 0.720 1.000 3 2000 2014
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.925 0.080 6 145627691 stop gained G/A;C snv 7.7E-05 0.700 1.000 3 1998 2014