rs28933375, PRF1

N. diseases: 4
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.
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
CUI: C1863727
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
25 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.700 1.000 2 1999 2001
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.010 1.000 1 2008 2008
Familial Hemophagocytic Lymphocytosis
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
6 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.010 1.000 1 2005 2005
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
13 0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03 0.010 1.000 1 2005 2005