IL7R, interleukin 7 receptor, 3575

N. diseases: 231; N. variants: 41
Disease: Omenn Syndrome ×
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: rs193922641
rs193922641 		0.882 0.120 5 35867437 missense variant G/A snv 1.2E-05 4.2E-05
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2014 2014