HPN, hepsin, 3249

N. diseases: 57; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4806073
rs4806073
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0523465
Disease:
Serum albumin measurement
C 0.800 GeneticVariation GWASDB Discovery and fine mapping of serum protein loci through transethnic meta-analysis. 23022100 2012
dbSNP: rs4806073
rs4806073
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0523465
Disease:
Serum albumin measurement
C 0.800 GeneticVariation GWASCAT Discovery and fine mapping of serum protein loci through transethnic meta-analysis. 23022100 2012
dbSNP: rs149131600
rs149131600
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0011847
Disease:
Diabetes
T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria. 31511532 2019
dbSNP: rs149131600
rs149131600
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0011849
Disease:
Diabetes Mellitus
T 0.700 GeneticVariation GWASCAT Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria. 31511532 2019
dbSNP: rs2452000
rs2452000
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10406943
rs10406943
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C2985280
Disease:
Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs138450474
rs138450474
Entrez Id: 3249;6324
Gene Symbol: HPN;SCN1B
HPN;SCN1B
CUI: C0376532
Disease:
Epilepsy, Rolandic
C 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs1688043
rs1688043
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0523465
Disease:
Serum albumin measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1688043
rs1688043
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0201657
Disease:
C-reactive protein measurement
T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs1688043
rs1688043
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0202236
Disease:
Triglycerides measurement
T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs4806073
rs4806073
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0728877
Disease:
Serum albumin level
C 0.700 GeneticVariation GWASDB Discovery and fine mapping of serum protein loci through transethnic meta-analysis. 23022100 2012
dbSNP: rs72550247
rs72550247
Entrez Id: 3249;6324
Gene Symbol: HPN;SCN1B
HPN;SCN1B
CUI: C3809311
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 13
0.700 GeneticVariation UNIPROT Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation. 19808477 2009
dbSNP: rs2305745
rs2305745
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The statistical analysis suggested that three SNPs (rs45512696, rs2305745, rs2305747) were significantly associated with the risk of prostate cancer (odds ratio (OR)=2.22, P=0.04; OR=0.73, P=0.03; OR=0.76, P=0.05, respectively). 22665141 2012
dbSNP: rs2305745
rs2305745
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The statistical analysis suggested that three SNPs (rs45512696, rs2305745, rs2305747) were significantly associated with the risk of prostate cancer (odds ratio (OR)=2.22, P=0.04; OR=0.73, P=0.03; OR=0.76, P=0.05, respectively). 22665141 2012
dbSNP: rs2305747
rs2305747
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The statistical analysis suggested that three SNPs (rs45512696, rs2305745, rs2305747) were significantly associated with the risk of prostate cancer (odds ratio (OR)=2.22, P=0.04; OR=0.73, P=0.03; OR=0.76, P=0.05, respectively). 22665141 2012
dbSNP: rs2305747
rs2305747
Entrez Id: 3249;100128675
Gene Symbol: HPN;HPN-AS1
HPN;HPN-AS1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The statistical analysis suggested that three SNPs (rs45512696, rs2305745, rs2305747) were significantly associated with the risk of prostate cancer (odds ratio (OR)=2.22, P=0.04; OR=0.73, P=0.03; OR=0.76, P=0.05, respectively). 22665141 2012
dbSNP: rs72550247
rs72550247
Entrez Id: 3249;6324
Gene Symbol: HPN;SCN1B
HPN;SCN1B
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE We identified 2 nonsynonymous variants in SCN1B (resulting in R85H, D153N) and 2 in SCN2B (R28Q, R28W) in patients with AF. 19808477 2009