HP, haptoglobin, 3240

N. diseases: 464; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894517
rs104894517
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C3279786
Disease:
ANHAPTOGLOBINEMIA
0.800 GeneticVariation UNIPROT A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia. 14999562 2004
dbSNP: rs104894517
rs104894517
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C3279786
Disease:
ANHAPTOGLOBINEMIA
C 0.800 GeneticVariation CLINVAR
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0392885
Disease:
High density lipoprotein measurement
A 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs1298695421
rs1298695421
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0042900
Disease:
Vitiligo
0.010 GeneticVariation BEFREE This is the first study reporting the correlation between the polymorphic status of MTHFR C677T, CBS I278T, and MTRR A66G and vitiligo. 30720153 2019
dbSNP: rs1298695421
rs1298695421
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C1847835
Disease:
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 GeneticVariation BEFREE This is the first study reporting the correlation between the polymorphic status of MTHFR C677T, CBS I278T, and MTRR A66G and vitiligo. 30720153 2019
dbSNP: rs4788458
rs4788458
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE These results suggest that the polymorphisms rs5472/rs9927981 and rs4788458 are not useful prognostic tools for patients with NSCLC treated with personalized peptide vaccination. 28356990 2017
dbSNP: rs9927981
rs9927981
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE These results suggest that the polymorphisms rs5472/rs9927981 and rs4788458 are not useful prognostic tools for patients with NSCLC treated with personalized peptide vaccination. 28356990 2017
dbSNP: rs5472
rs5472
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C1328504
Disease:
Hormone refractory prostate cancer
0.010 GeneticVariation BEFREE Haptoglobin promoter polymorphism rs5472 as a prognostic biomarker for peptide vaccine efficacy in castration-resistant prostate cancer patients. 26428930 2015
dbSNP: rs5470
rs5470
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0040592
Disease:
Trachoma
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs5470
rs5470
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0037054
Disease:
Sickle Cell Trait
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs5470
rs5470
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0343723
Disease:
Neonatal chlamydial conjunctivitis
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0040592
Disease:
Trachoma
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0343723
Disease:
Neonatal chlamydial conjunctivitis
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs5471
rs5471
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0037054
Disease:
Sickle Cell Trait
0.010 GeneticVariation BEFREE The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional polymorphism (Hp1/Hp2) plus the functional promoter SNPs -61A-C (rs5471) and -101C-G (rs5470), or sickle cell trait (HbAS, rs334) were associated with risk of active trachoma when stratified by age and sex, in rural Gambian children. 20552021 2010
dbSNP: rs2070937
rs2070937
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE To further reveal the genetic relationship between acute phase proteins (APPs) and schizophrenia disease, we tested Hp alpha1/Hp alpha2 (Hp 1/2) polymorphism and two single nucleotide polymorphisms (SNPs) of Hp, rs2070937 and rs5473, for associations with schizophrenia in the Chinese Han population. 16897611 2007
dbSNP: rs5473
rs5473
Entrez Id: 3240;54957
Gene Symbol: HP;TXNL4B
HP;TXNL4B
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE To further reveal the genetic relationship between acute phase proteins (APPs) and schizophrenia disease, we tested Hp alpha1/Hp alpha2 (Hp 1/2) polymorphism and two single nucleotide polymorphisms (SNPs) of Hp, rs2070937 and rs5473, for associations with schizophrenia in the Chinese Han population. 16897611 2007