|
rs200088103
|
GPT;LOC101928953
|
Alanine aminotransferase measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Furthermore, two novel missense variants of GPT with rare frequency in East Asians but extreme rarity in other populations were associated with alanine aminotransferase (rs200088103; p.Arg133Trp, P = 2.02 × 10<sup>-9</sup> and rs748547625; p.Arg143Cys, P = 1.41 × 10<sup>-6</sup>).
|
30718733 |
2019 |
|
rs200088103
|
GPT;LOC101928953
|
Serum Alanine Aminotransferase Measurement
|
T |
0.700 |
GeneticVariation |
GWASCAT |
The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
|
30718733 |
2019 |
|
rs1054690270
|
GPT;LOC101928953
|
Hepatitis B, Chronic
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of the S267F variant on NTCP gene and treatment response to pegylated interferon in patients with chronic hepatitis B: a multicentre study.
|
28635613 |
2018 |
|
rs1054690270
|
GPT;LOC101928953
|
Hepatitis B
|
|
0.010 |
GeneticVariation |
BEFREE |
The S267F variant on the NTCP gene is independently associated with sustained normalization of ALT following treatment with PEG-IFN in patients with HBV infection who are HBeAg-positive.
|
28635613 |
2018 |
|
rs1054690270
|
GPT;LOC101928953
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The S267F variant on the NTCP gene is inversely associated with the chronicity of HBV infection, progression to cirrhosis and hepatocellular carcinoma in East Asian populations.
|
28635613 |
2018 |
|
rs1054690270
|
GPT;LOC101928953
|
Liver Cirrhosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The S267F variant on the NTCP gene is inversely associated with the chronicity of HBV infection, progression to cirrhosis and hepatocellular carcinoma in East Asian populations.
|
28635613 |
2018 |
|
rs1054690270
|
GPT;LOC101928953
|
Cirrhosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The S267F variant on the NTCP gene is inversely associated with the chronicity of HBV infection, progression to cirrhosis and hepatocellular carcinoma in East Asian populations.
|
28635613 |
2018 |
|
rs149505691
|
GPT;LOC101928953
|
Hepatitis B
|
|
0.010 |
GeneticVariation |
BEFREE |
Clinical features and viral quasispecies characteristics associated with infection by the hepatitis B virus G145R immune escape mutant.
|
28325923 |
2017 |
|
rs747620337
|
GPT;LOC101928953
|
Hepatitis C
|
|
0.010 |
GeneticVariation |
BEFREE |
Baseline drug-resistant mutations L31F/I/M/V, Q54H, P58S, A92K, and Y93H in the HCV NS5A region and V36A, T54A/S, Q80K/L/R, R155K/T/Q, A156S/V/T, and D168A/E/H/T/V in the HCV NS3/4A region were assessed by direct sequencing.
|
27236547 |
2017 |
|
rs201065145
|
GPT;LOC101928953
|
Hepatitis C
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a significant correlation between the combined presence of HCV and TPMT*3B G460A gene polymorphisms and grades 2-4 hepatotoxicity as aspartate aminotransferase (AST) elevation (P < 0.04).
|
27163515 |
2016 |
|
rs897755799
|
GPT;MFSD3;LOC101928953
|
Spastic Paraplegia, Hereditary
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5.
|
24658845 |
2014 |
|
rs748409747
|
GPT;LOC101928953
|
Hydrops Fetalis, Non-Immune
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation.
|
23073042 |
2013 |
|
rs748409747
|
GPT;LOC101928953
|
Familial Hemophagocytic Lymphocytosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of nonimmune hydrops fetalis with familial hemophagocytic lymphohistiocytosis in identical twin neonates with perforin His222Arg (c665A>G) mutation.
|
23073042 |
2013 |
|
rs1443496641
|
GPT;LOC101928953
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Cancer patients with severe antimetabolite toxicity were evaluated for methylenetetrahydrofolate reductase (MTHFR) gene C667T, thymidilate synthase (TS) gene 5' UTR variable number of tandem repeats (VNTR), dihydroprymidine dehydrogenase (DPYD) gene IVS14+1G/A, Xeroderma pigmentosum (XPD) gene Lys751Gln and X-ray repair cross-complementing group 1 (XRCC1) gene Arg399Gln polymorphisms.
|
22799365 |
2012 |
|
rs1443496641
|
GPT;LOC101928953
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Cancer patients with severe antimetabolite toxicity were evaluated for methylenetetrahydrofolate reductase (MTHFR) gene C667T, thymidilate synthase (TS) gene 5' UTR variable number of tandem repeats (VNTR), dihydroprymidine dehydrogenase (DPYD) gene IVS14+1G/A, Xeroderma pigmentosum (XPD) gene Lys751Gln and X-ray repair cross-complementing group 1 (XRCC1) gene Arg399Gln polymorphisms.
|
22799365 |
2012 |
|
rs747432300
|
GPT;LOC101928953
|
Liver Cirrhosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of preS T3098C and T53C mutations of genotype C HBV was significantly higher in LC and HCC patients than ASC and CHB patients.
|
20337225 |
2009 |
|
rs747432300
|
GPT;LOC101928953
|
Hepatitis B
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of genotype C HBV preS T3098C and T53C mutations is associated with hepatitis B infection progression
|
20337225 |
2009 |