SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Disease: Mucocutaneous Lymph Node 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: rs17782904
rs17782904 		0.925 0.120 18 44733745 intron variant G/A snv 0.18
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016