Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4295627
rs4295627
CUI: C0017638
Disease: Glioma
Glioma
0.900 GeneticVariation GWASCAT Chromosome 7p11.2 (EGFR) variation influences glioma risk. 21531791

2011

dbSNP: rs4295627
rs4295627
CUI: C0017638
Disease: Glioma
Glioma
G 0.900 GeneticVariation GWASCAT We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)). 19578367

2009

dbSNP: rs891835
rs891835
CUI: C0017638
Disease: Glioma
Glioma
G 0.810 GeneticVariation GWASCAT Genome-wide association study identifies five susceptibility loci for glioma. 19578367

2009

dbSNP: rs1991866
rs1991866
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs1991866
rs1991866
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
G 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012

dbSNP: rs7017252
rs7017252
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
A 0.800 GeneticVariation GWASCAT Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. 28232668

2017

dbSNP: rs987525
rs987525
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
A 0.800 GeneticVariation GWASCAT A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. 20436469

2010

dbSNP: rs987525
rs987525
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
A 0.800 GeneticVariation GWASCAT Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. 19270707

2009

dbSNP: rs987525
rs987525
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.800 GeneticVariation GWASCAT A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. 19656524

2009

dbSNP: rs55705857
rs55705857
CUI: C0017638
Disease: Glioma
Glioma
G 0.760 GeneticVariation GWASCAT Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. 29743610

2018

dbSNP: rs55705857
rs55705857
CUI: C0017638
Disease: Glioma
Glioma
G 0.760 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443

2017

dbSNP: rs55705857
rs55705857
CUI: C0017638
Disease: Glioma
Glioma
G 0.760 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for glioma. 26424050

2015

dbSNP: rs55705857
rs55705857
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
G 0.710 GeneticVariation GWASCAT Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 30152087

2018

dbSNP: rs55705857
rs55705857
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
G 0.710 GeneticVariation GWASCAT Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. 30152087

2018

dbSNP: rs55705857
rs55705857
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
G 0.710 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443

2017

dbSNP: rs55705857
rs55705857
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
G 0.710 GeneticVariation GWASCAT Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. 28346443

2017

dbSNP: rs10098310
rs10098310
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
A 0.700 GeneticVariation GWASCAT Multiple loci are associated with white blood cell phenotypes. 21738480

2011

dbSNP: rs10098310
rs10098310
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
A 0.700 GeneticVariation GWASCAT Multiple loci are associated with white blood cell phenotypes. 21738480

2011

dbSNP: rs10100356
rs10100356
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs10107630
rs10107630
Finding of Mean Corpuscular Hemoglobin
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs10107630
rs10107630
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs10107630
rs10107630
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs10481172
rs10481172
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs10956445
rs10956445
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
C 0.700 GeneticVariation GWASCAT Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. 24709693

2014

dbSNP: rs10956483
rs10956483
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
C 0.700 GeneticVariation GWASCAT Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. 21738478

2011