Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763361
rs763361
Diabetes Mellitus, Insulin-Dependent
C 0.900 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011

dbSNP: rs763361
rs763361
Diabetes Mellitus, Insulin-Dependent
A 0.900 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007

dbSNP: rs12969657
rs12969657
Platelet mean volume determination (procedure)
T 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419

2011

dbSNP: rs2469434
rs2469434
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
C 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342

2014

dbSNP: rs727088
rs727088
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: rs893001
rs893001
Platelet mean volume determination (procedure)
C 0.800 GeneticVariation GWASCAT A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. 19820697

2009

dbSNP: rs1615504
rs1615504
Diabetes Mellitus, Insulin-Dependent
T 0.700 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015

dbSNP: rs17207042
rs17207042
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs1788097
rs1788097
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
T 0.700 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017

dbSNP: rs1788097
rs1788097
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
A 0.700 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 23603763

2013

dbSNP: rs1788103
rs1788103
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1788105
rs1788105
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte 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: rs1790588
rs1790588
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1790588
rs1790588
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1790588
rs1790588
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1790588
rs1790588
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs1790963
rs1790963
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: rs1823778
rs1823778
Platelet mean volume determination (procedure)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs1865761
rs1865761
Platelet mean volume determination (procedure)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs35977166
rs35977166
Platelet Component Distribution Width Measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs4891786
rs4891786
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs4891786
rs4891786
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117

2018

dbSNP: rs66504140
rs66504140
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs66504140
rs66504140
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs66504140
rs66504140
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016