TMPRSS15, transmembrane serine protease 15, 5651

N. diseases: 20; N. variants: 6
Disease: Enterokinase Deficiency ×
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: rs138221037
rs138221037 		1.000 0.080 21 18343504 splice donor variant A/C snv 5.5E-04 3.1E-04
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs121908059
rs121908059 		1.000 0.080 21 18281139 stop gained G/A snv 8.0E-06 3.5E-05
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908060
rs121908060 		1.000 0.080 21 18359856 stop gained G/A;C snv 4.0E-06
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555909961
rs1555909961 		1.000 0.080 21 18398320 frameshift variant AGTGC/- del
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs77200626
rs77200626 		1.000 0.080 21 18312975 stop gained G/C snv 6.3E-04 6.3E-04
CUI: C0268416
Disease: Enterokinase Deficiency
Enterokinase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0