PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: Lymphohistiocytosis, Hemophagocytic ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs35947132
rs35947132 		0.776 0.280 10 70600631 missense variant G/A snv 2.9E-02 2.9E-02
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.020 1.000 2 2005 2014
dbSNP: rs28933375
rs28933375 		0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs747380397
rs747380397 		1.000 0.040 10 70599026 missense variant C/A;T snv 6.4E-05
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
Lymphohistiocytosis, Hemophagocytic 		Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005