RELA, RELA proto-oncogene, NF-kB subunit, 5970

N. diseases: 483; N. variants: 11
Disease: TNF receptor-associated periodic fever syndrome (TRAPS) ×
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: rs779944761
rs779944761 		1.000 0.120 11 65661817 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015