IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Disease: Severe Combined Immunodeficiency ×
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: rs193922647
rs193922647 		1.000 0.120 5 35875988 stop lost A/C snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0