Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11154801
rs11154801
AHI1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		A 0.810 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602

2013
dbSNP: rs11154801
rs11154801
AHI1
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		A 0.810 GeneticVariation GWASCAT Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088

2011
dbSNP: rs11154801
rs11154801
AHI1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		T 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017
dbSNP: rs12190426
rs12190426
AHI1
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs13208164
rs13208164
AHI1
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: rs146318841
rs146318841
AHI1
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs146318841
rs146318841
AHI1
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs146318841
rs146318841
AHI1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs146318841
rs146318841
AHI1
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs2207000
rs2207000
AHI1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs2223802
rs2223802
AHI1
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs2246943
rs2246943
AHI1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2746419
rs2746419
AHI1
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		A 0.700 GeneticVariation GWASCAT Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. 31263063

2019
dbSNP: rs2746432
rs2746432
AHI1
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2746438
rs2746438
AHI1
CUI: C0013595
Disease: Eczema
Eczema 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs6914831
rs6914831
AHI1
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: rs6914831
rs6914831
AHI1
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: rs6914831
rs6914831
AHI1
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		C 0.700 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015
dbSNP: rs6928977
rs6928977
AHI1
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		G 0.700 GeneticVariation GWASCAT We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>). 29196614

2017
dbSNP: rs6928977
rs6928977
AHI1
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		G 0.700 GeneticVariation GWASCAT We identify risk loci for all classical Hodgkin lymphoma at 6q22.33 (rs9482849, P = 1.52 × 10<sup>-8</sup>) and for nodular sclerosis Hodgkin lymphoma at 3q28 (rs4459895, P = 9.43 × 10<sup>-17</sup>), 6q23.3 (rs6928977, P = 4.62 × 10<sup>-11</sup>), 10p14 (rs3781093, P = 9.49 × 10<sup>-13</sup>), 13q34 (rs112998813, P = 4.58 × 10<sup>-8</sup>) and 16p13.13 (rs34972832, P = 2.12 × 10<sup>-8</sup>). 29196614

2017
dbSNP: rs7773987
rs7773987
AHI1
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016
dbSNP: rs7773987
rs7773987
AHI1
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016