Source: BEFREE

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: rs753438778
rs753438778
CSF2
0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.010 1.000 1 2013 2013
dbSNP: rs753438778
rs753438778
CSF2
0.925 0.160 5 132074925 missense variant C/G;T snv 8.0E-06; 4.0E-06
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 1.000 1 2013 2013