Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16879552
rs16879552
NRG1
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		G 0.850 GeneticVariation GWASCAT Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. 19196962

2009
dbSNP: rs2439302
rs2439302
NRG1
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		G 0.830 GeneticVariation GWASCAT After combining the results, three variants were shown to associate with thyroid cancer: rs966423 on 2q35 (OR = 1.34; P(combined) = 1.3 × 10(-9)), rs2439302 on 8p12 (OR = 1.36; P(combined) = 2.0 × 10(-9)) and rs116909374 on 14q13.3 (OR = 2.09; P(combined) = 4.6 × 10(-11)), a region previously reported to contain an uncorrelated variant conferring risk of thyroid cancer. 22267200

2012
dbSNP: rs7825175
rs7825175
NRG1
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		A 0.800 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906

2013
dbSNP: rs10088648
rs10088648
NRG1
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017
dbSNP: rs10102889
rs10102889
NRG1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163

2019
dbSNP: rs1481757
rs1481757
NRG1 ; NRG1-IT1
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 GeneticVariation GWASCAT GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. 26835600

2016
dbSNP: rs16879552
rs16879552
NRG1
CUI: C3661523
Disease: Congenital Intestinal Aganglionosis
Congenital Intestinal Aganglionosis 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. 19196962

2009
dbSNP: rs17673138
rs17673138
NRG1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. 25944848

2015
dbSNP: rs17673138
rs17673138
NRG1
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. 25944848

2015
dbSNP: rs17673138
rs17673138
NRG1
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. 25944848

2015
dbSNP: rs17673138
rs17673138
NRG1
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs. 25944848

2015
dbSNP: rs1878918
rs1878918
NRG1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017
dbSNP: rs1878918
rs1878918
NRG1
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 GeneticVariation GWASCAT Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. 28054174

2017
dbSNP: rs200393053
rs200393053
NRG1
CUI: C2825910
Disease: Stem Cell Factor Measurement
Stem Cell Factor Measurement 		AT 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323

2017
dbSNP: rs2466075
rs2466075
NRG1
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016
dbSNP: rs2466076
rs2466076
NRG1
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		G 0.700 GeneticVariation GWASCAT A genome-wide association study yields five novel thyroid cancer risk loci. 28195142

2017
dbSNP: rs2466077
rs2466077
NRG1
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019
dbSNP: rs2466103
rs2466103
NRG1
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs35033136
rs35033136
NRG1
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs4236709
rs4236709
NRG1
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		G 0.700 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317

2019
dbSNP: rs4236709
rs4236709
NRG1
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317

2019
dbSNP: rs4236709
rs4236709
NRG1
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		G 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730

2017
dbSNP: rs4489283
rs4489283
NRG1
CUI: C0017654
Disease: Glomerular Filtration Rate
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: rs4489283
rs4489283
NRG1
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462

2019
dbSNP: rs527953512
rs527953512
NRG1
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		CA 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019