Disease: Specific granule deficiency ×
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: rs760325316
rs760325316 		1.000 0.040 14 23118701 stop gained G/A snv 1.2E-05
CUI: C0398593
Disease: Specific granule deficiency
Specific granule deficiency 		Hemic and Lymphatic Diseases 0.700 0