F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5896
rs5896
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0040420
Disease:
Tonometry 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs5899
rs5899
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs75185853
rs75185853
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs3136516
rs3136516
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1861172
Disease:
Venous Thromboembolism 		G 0.700 GeneticVariation GWASCAT Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor. 28373160 2017
dbSNP: rs61884307
rs61884307
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0008074
Disease:
Child Development Disorders, Pervasive 		C 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs61884307
rs61884307
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0036341
Disease:
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0149871
Disease:
Deep Vein Thrombosis 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. 26908601 2016
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0034065
Disease:
Pulmonary Embolism 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis. 26908601 2016
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. 23429074 2013
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		C 0.700 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs2070850
rs2070850
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2070850
rs2070850
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3136457
rs3136457
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs3136457
rs3136457
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. 21349849 2011
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 21243428 2011
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR HFE polymorphisms affect cellular glutamate regulation. 19560233 2011
dbSNP: rs3136441
rs3136441
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		C 0.700 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 19554541 2009
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		A 0.700 CausalMutation CLINVAR Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 19159930 2009
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		A 0.700 CausalMutation CLINVAR Thrombophilia: 2009 update. 19289024 2009
dbSNP: rs121918477
rs121918477
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004
dbSNP: rs121918478
rs121918478
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004
dbSNP: rs121918479
rs121918479
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004
dbSNP: rs121918480
rs121918480
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004