TPH2, tryptophan hydroxylase 2, 121278

N. diseases: 137; N. variants: 37
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: rs4290270
rs4290270 		0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs7305115
rs7305115 		0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010