GPT, glutamic--pyruvic transaminase, 2875

N. diseases: 511; N. variants: 9
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: rs200088103
rs200088103 		8 144505033 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.0E-04
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.700 1.000 1 2019 2019
dbSNP: rs200088103
rs200088103 		8 144505033 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.0E-04
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1054690270
rs1054690270 		0.827 0.160 8 144505907 frameshift variant CT/- delins
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270 		0.827 0.160 8 144505907 frameshift variant CT/- delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270 		0.827 0.160 8 144505907 frameshift variant CT/- delins
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270 		0.827 0.160 8 144505907 frameshift variant CT/- delins
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1054690270
rs1054690270 		0.827 0.160 8 144505907 frameshift variant CT/- delins
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs1443496641
rs1443496641 		8 144505417 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1443496641
rs1443496641 		8 144505417 missense variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs149505691
rs149505691 		1.000 0.080 8 144505069 missense variant G/A snv 1.5E-04 6.3E-05
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs201065145
rs201065145 		1.000 0.080 8 144505096 missense variant G/A snv 1.4E-04 3.5E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs747432300
rs747432300 		0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2009 2009
dbSNP: rs747432300
rs747432300 		0.925 0.120 8 144504357 missense variant C/A;T snv 8.1E-06; 1.2E-04
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs747620337
rs747620337 		1.000 0.080 8 144504414 missense variant T/C snv 4.0E-06 2.8E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs748409747
rs748409747 		1.000 0.200 8 144505418 missense variant G/A;T snv 9.1E-06; 1.8E-05
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs748409747
rs748409747 		1.000 0.200 8 144505418 missense variant G/A;T snv 9.1E-06; 1.8E-05
CUI: C0272199
Disease: Familial Hemophagocytic Lymphocytosis
Familial Hemophagocytic Lymphocytosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs897755799
rs897755799 		1.000 0.080 8 144506618 missense variant C/T snv 1.9E-05 7.1E-06
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2014 2014