Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs742132
rs742132
CARMIL1
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.800 GeneticVariation GWASCAT Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597

2009
dbSNP: rs441460
rs441460
CARMIL1
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		G 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011
dbSNP: rs926326
rs926326
CARMIL1
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs75063949
rs75063949
CARMIL1
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		0.700 GeneticVariation GWASCAT Examination of the shared genetic basis of anorexia nervosa and obsessive-compulsive disorder. 30087453

2018
dbSNP: rs75063949
rs75063949
CARMIL1
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder 		0.700 GeneticVariation GWASCAT Examination of the shared genetic basis of anorexia nervosa and obsessive-compulsive disorder. 30087453

2018
dbSNP: rs6913974
rs6913974
CARMIL1
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs35789010
rs35789010
CARMIL1
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		A 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: rs35789010
rs35789010
CARMIL1
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		A 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: rs35789010
rs35789010
CARMIL1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		A 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017
dbSNP: rs35789010
rs35789010
CARMIL1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs35789010
rs35789010
CARMIL1
CUI: C0011847
Disease: Diabetes
Diabetes 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs35789010
rs35789010
CARMIL1
CUI: C0017654
Disease: Glomerular Filtration Rate
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: rs35789010
rs35789010
CARMIL1
CUI: C0021704
Disease: Intelligence
Intelligence 		A 0.700 GeneticVariation GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435

2019
dbSNP: rs34991172
rs34991172
CARMIL1
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018
dbSNP: rs34164888
rs34164888
CARMIL1
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs214053
rs214053
CARMIL1
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs214053
rs214053
CARMIL1
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs202056061
rs202056061
CARMIL1
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		AAGTT 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935

2017
dbSNP: rs202056061
rs202056061
CARMIL1
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		AAGTT 0.700 GeneticVariation GWASCAT Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? 28334935

2017
dbSNP: rs13212936
rs13212936
CARMIL1
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018
dbSNP: rs12526480
rs12526480
CARMIL1
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		T 0.700 GeneticVariation GWASCAT The novel genetic variants associated with platelet count were in the following regions (the most significant SNP, closest gene, and p-value): 6p22 (rs12526480, LRRC16A, p = 9.1×10(-9)), 7q11 (rs13236689, CD36, p = 2.8×10(-9)), 10q21 (rs7896518, JMJD1C, p = 2.3×10(-12)), 11q13 (rs477895, BAD, p = 4.9×10(-8)), and 20q13 (rs151361, SLMO2, p = 9.4×10(-9)). 22423221

2012
dbSNP: rs116272812
rs116272812
CARMIL1
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs116272812
rs116272812
CARMIL1
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs116272812
rs116272812
CARMIL1
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs7774567
rs7774567
CMAHP ; CARMIL1
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203

2019