rs121909053, SERPINI1

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.
Familial encephalopathy with neuroserpin inclusion bodies
CUI: C1858680
Disease: Familial encephalopathy with neuroserpin inclusion bodies
4 0.882 0.120 3 167825265 missense variant G/A snv 0.700 0
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
17 0.882 0.120 3 167825265 missense variant G/A snv 0.010 1.000 1 2002 2002
Severe dementia
CUI: C3494652
Disease: Severe dementia
3 0.882 0.120 3 167825265 missense variant G/A snv 0.010 1.000 1 2017 2017