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: rs80338747
rs80338747
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs80338747
rs80338747
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		0.800 GeneticVariation UNIPROT Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. 17632512 2007
dbSNP: rs12988804
rs12988804
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0026769
Disease:
Multiple Sclerosis 		T 0.710 GeneticVariation GWASCAT In the pooled results, using these three unique longitudinal MS cohorts, we discovered one novel locus (<i>LRP2</i>; most significant single nucleotide polymorphism rs12988804) that reached genome-wide significance in predicting relapse risk (HR=2.18, p=3.30×10<sup>-8</sup>). 28739605 2017
dbSNP: rs12988804
rs12988804
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0026769
Disease:
Multiple Sclerosis 		0.710 GeneticVariation BEFREE Variant rs12988804 in LRP2, the first example of a genome-wide significant association with relapse rate in MS, is replicated in an independent study. 29303040 2018
dbSNP: rs111733491
rs111733491
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR
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: 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: rs142093111
rs142093111
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs147287428
rs147287428
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs147287428
rs147287428
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs1559043276
rs1559043276
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome 		C 0.700 CausalMutation CLINVAR
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: rs16856823
rs16856823
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs16856823
rs16856823
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs16856823
rs16856823
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: rs16856823
rs16856823
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
dbSNP: rs189798425
rs189798425
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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