INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.830 GeneticVariation BEFREE The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL - C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns. 31837364 2020
dbSNP: rs1799817
rs1799817
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.030 GeneticVariation BEFREE Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women. 31837364 2020
dbSNP: rs121913135
rs121913135
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0000889
Disease:
Acanthosis Nigricans 		0.010 GeneticVariation BEFREE Furthermore, a Japanese boy with insulin resistance and acanthosis nigricans was found to be heterozygous for a mutation of the insulin receptor gene that resulted in the replacement of glycine-996 with valine in the ATP binding site of the receptor. 31827016 2019
dbSNP: rs10405423
rs10405423
Entrez Id: 3643
Gene Symbol: INSR
INSR
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: rs10421414
rs10421414
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs4804413
rs4804413
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.070 GeneticVariation BEFREE We aimed to investigate the relationship of type 2 diabetes with a Gly972Arg (G972R) variant of the <i>IRS-1</i> gene and Gly1057Asp (G1057D) polymorphism of <i>IRS-2</i> gene in the population of Punjab, Pakistan. 31404179 2019
dbSNP: rs1799817
rs1799817
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C1332166
Disease:
Adenocarcinoma of the gastroesophageal junction 		0.010 GeneticVariation BEFREE Our findings highlight that TCF7L2 rs29048</span>1, INS rs689, and INSR rs1799817 polymorphisms may increase the risk of AEG. 31211453 2019
dbSNP: rs1799817
rs1799817
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node 		0.010 GeneticVariation BEFREE In addition, TCF7L2 rs290481 and INSR rs17</span>99817 SNPs may influence the lymph node metastasis in patients with AEG. 31211453 2019
dbSNP: rs8106700
rs8106700
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs8106042
rs8106042
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs1035941
rs1035941
Entrez Id: 3643
Gene Symbol: INSR
INSR
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: rs4804411
rs4804411
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs4804411
rs4804411
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0001948
Disease:
Alcohol consumption 		C 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs4804411
rs4804411
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs12978472
rs12978472
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12978472
rs12978472
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34840745
rs34840745
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3786680
rs3786680
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4804433
rs4804433
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0020676
Disease:
Hypothyroidism 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76729345
rs76729345
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs76729345
rs76729345
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs75392157
rs75392157
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs919275
rs919275
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE Six SNPs were associated with all-cause (CDKAL1-rs981042, P = 0.0032; HHEX-rs1111875, P = 0.0361; and INSR-rs919275, P = 0.0488) or BC-specific (CDKN2A/CDKN2B-rs3218020, P = 0.0225; CDKAL1-rs981042, P = 0.0246; and TCF2/HNF1B-rs3094508, P = 0.0344) mortality in additive genotype models, at α = 0.05. 30457165 2019
dbSNP: rs919275
rs919275
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE Six SNPs were associated with all-cause (CDKAL1-rs981042, P = 0.0032; HHEX-rs1111875, P = 0.0361; and INSR-rs919275, P = 0.0488) or BC-specific (CDKN2A/CDKN2B-rs3218020, P = 0.0225; CDKAL1-rs981042, P = 0.0246; and TCF2/HNF1B-rs3094508, P = 0.0344) mortality in additive genotype models, at α = 0.05. 30457165 2019