LRP2, LDL receptor related protein 2, 4036

N. diseases: 254; N. variants: 51
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200309784
rs200309784
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		GA 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study. 29779033 2018
dbSNP: rs200309784
rs200309784
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		GA 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study. 29779033 2018
dbSNP: rs200469773
rs200469773
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs200469773
rs200469773
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0740394
Disease:
Hyperuricemia 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs2075251
rs2075251
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs12988804
rs12988804
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0679254
Disease:
Disease recurrence 		T 0.700 GeneticVariation GWASCAT Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis. 28739605 2017
dbSNP: rs4667594
rs4667594
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs4667594
rs4667594
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		A 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs57989581
rs57989581
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. 27588450 2016
dbSNP: rs2268365
rs2268365
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. 25189868 2015
dbSNP: rs16856594
rs16856594
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs16856594
rs16856594
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs830948
rs830948
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs830948
rs830948
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs830948
rs830948
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2544390
rs2544390
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		C 0.700 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
dbSNP: rs760114690
rs760114690
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		C 0.700 GeneticVariation CLINVAR Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
dbSNP: rs760114690
rs760114690
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		C 0.700 GeneticVariation CLINVAR Donnai-Barrow syndrome: four additional patients. 12923867 2003
dbSNP: rs111733491
rs111733491
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1358532875
rs1358532875
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs138269726
rs138269726
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1559043276
rs1559043276
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs202057289
rs202057289
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0033375
Disease:
Prolactinoma 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs202057289
rs202057289
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0271183
Disease:
Severe myopia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587776717
rs587776717
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		T 0.700 CausalMutation CLINVAR