PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
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
Familial Hemophagocytic Lymphocytosis
Hemic and Lymphatic Diseases 0.040 1.000 4 2005 2008
dbSNP: rs28933375
rs28933375
0.882 0.160 10 70598966 missense variant T/C snv 5.0E-03 7.5E-03
Familial Hemophagocytic Lymphocytosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs28933973
rs28933973
1.000 0.040 10 70599048 missense variant G/A snv 1.2E-05
Familial Hemophagocytic Lymphocytosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013