TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Disease: Triosephosphate Isomerase 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: rs121964845
rs121964845 		1.000 0.120 12 6869174 missense variant G/C snv 7.6E-05 1.2E-04
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.820 1.000 17 1986 2017
dbSNP: rs121964847
rs121964847 		1.000 0.120 12 6870354 missense variant T/C snv 4.0E-06
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 4 1986 1997
dbSNP: rs121964848
rs121964848 		1.000 0.120 12 6868873 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 4 1986 1997
dbSNP: rs121964849
rs121964849 		1.000 0.120 12 6869741 missense variant A/G snv
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 4 1986 1997
dbSNP: rs121964850
rs121964850 		1.000 0.120 12 6869369 stop gained G/T snv
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1565538350
rs1565538350 		0.851 0.200 12 6870074 missense variant G/A snv
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs188138723
rs188138723 		1.000 0.120 12 6869693 missense variant G/A snv 1.2E-03 1.2E-03
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777440
rs587777440 		1.000 0.120 12 6870355 missense variant T/C snv
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587777441
rs587777441 		1.000 0.120 12 6867593 frameshift variant -/G delins
CUI: C1860808
Disease: Triosephosphate Isomerase Deficiency
Triosephosphate Isomerase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0