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
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: rs80338747
rs80338747
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C1857277
Disease:
Donnai-Barrow syndrome
G 0.800 CausalMutation CLINVAR
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: 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: 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: rs2075251
rs2075251
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure)
A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs2075252
rs2075252
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0033687
Disease:
Proteinuria
T 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138 2019
dbSNP: rs2390793
rs2390793
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs2390793
rs2390793
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals. 30993211 2019
dbSNP: rs35472707
rs35472707
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs35472707
rs35472707
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
T 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs3770636
rs3770636
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs3770636
rs3770636
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
G 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs3815573
rs3815573
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs4667594
rs4667594
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs60641214
rs60641214
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs755631
rs755631
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0017654
Disease:
Glomerular Filtration Rate
A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs9287911
rs9287911
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
CUI: C0202239
Disease:
Uric acid measurement (procedure)
A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
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: 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