Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation ×
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: rs587777685
rs587777685 		0.882 0.120 8 47820870 missense variant A/C snv
CUI: C1865370
Disease: Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009