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: rs104894500
rs104894500
0.882 0.200 15 55224004 stop gained G/A;T snv 4.0E-06
CUI: C3887558
Disease: Hemophagocytic Syndrome
Hemophagocytic Syndrome
Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007