IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs920811
rs920811
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0017654
Disease:
Glomerular Filtration Rate
G 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs9457800
rs9457800
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs998203
rs998203
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs146203232
rs146203232
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C1561643
Disease:
Chronic Kidney Diseases
T 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs146203232
rs146203232
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0022661
Disease:
Kidney Failure, Chronic
T 0.700 GeneticVariation GWASCAT Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. 29545352 2018
dbSNP: rs3777404
rs3777404
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2985280
Disease:
Blood Protein Measurement
G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs688359
rs688359
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C1956346
Disease:
Coronary Artery Disease
A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs71793166
rs71793166
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs2297363
rs2297363
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.700 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs614754
rs614754
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C1096202
Disease:
Lipoprotein (a) measurement
C 0.700 GeneticVariation GWASCAT A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. 28512139 2017
dbSNP: rs121434587
rs121434587
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2239176
Disease:
Liver carcinoma
T 0.700 CausalMutation CLINVAR
dbSNP: rs121434588
rs121434588
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2239176
Disease:
Liver carcinoma
A 0.700 CausalMutation CLINVAR
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The IGF2R SNPs rs629849 and rs642588 were not significantly associated with HCC risk, whereas a homozygous IGF2R rs629849 GG genotype was associated with a significantly elevated risk of non‑viral liver cirrhosis (P=0.05). 30720132 2019
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE The IGF2R SNPs rs629849 and rs642588 were not significantly associated with HCC risk, whereas a homozygous IGF2R rs629849 GG genotype was associated with a significantly elevated risk of non‑viral liver cirrhosis (P=0.05). 30720132 2019
dbSNP: rs642588
rs642588
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0023890
Disease:
Liver Cirrhosis
0.010 GeneticVariation BEFREE The IGF2R SNPs rs629849 and rs642588 were not significantly associated with HCC risk, whereas a homozygous IGF2R rs629849 GG genotype was associated with a significantly elevated risk of non‑viral liver cirrhosis (P=0.05). 30720132 2019
dbSNP: rs642588
rs642588
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The IGF2R SNPs rs629849 and rs642588 were not significantly associated with HCC risk, whereas a homozygous IGF2R rs629849 GG genotype was associated with a significantly elevated risk of non‑viral liver cirrhosis (P=0.05). 30720132 2019
dbSNP: rs1479355
rs1479355
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs916829 (ABCC8), heterozygotes showed a lower risk of MetS compared with the reference group. 25867398 2015
dbSNP: rs9457827
rs9457827
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0278704
Disease:
Malignant Childhood Neoplasm
0.010 GeneticVariation BEFREE We determined serum AMH levels (a marker of ovarian reserve) in adult survivors of childhood cancer (n = 176) and studied single nucleotide polymorphisms (SNPs) previously reported to be associated with age at natural menopause: BRSK1 (rs1172822), ARHGEF7 (rs7333181), MCM8 (rs236114), PCSK1 (rs271924), IGF2R (rs9457827) and TNF (rs909253). 23360674 2013
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0220641
Disease:
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE Association between Gly1619ARG polymorphism of IGF2R domain 11 (rs629849) and advanced stage of oral cancer. 21347719 2012
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE The aim of this study was to assess whether genetic variation in the mitogen-binding domain of IGF2R, Gly1619Arg, disrupts normal function of IGF2R and contributes to further progression and distant metastasis of localized oral squamous cell carcinoma (OSCC). 21347719 2012
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0153381
Disease:
Malignant neoplasm of mouth
0.010 GeneticVariation BEFREE Association between Gly1619ARG polymorphism of IGF2R domain 11 (rs629849) and advanced stage of oral cancer. 21347719 2012
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We evaluated the associations between IGF2R non-synonymous genetic variants (c.5002G>A, Gly1619Arg(rs629849), and c.901C>G, Leu252Val(rs8191754)), circulating IGF2 levels, and colon cancer (CC) risk among African American and White participants enrolled in the North Carolina Colon Cancer Study (NCCCS). 22377707 2012
dbSNP: rs629849
rs629849
Entrez Id: 3482
Gene Symbol: IGF2R
IGF2R
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Gly1619Arg polymorphism of IGF2R domain 11 (rs629849) was assessed in blood samples of 113 individuals with histology-confirmed OSCC, and IGF2R genotypes were correlated with the stage of tumor (localized; TMN stages I-II versus advanced; TMN stages III-IV). 21347719 2012