Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3810936
rs3810936
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
C 0.850 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010

dbSNP: rs7848647
rs7848647
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs4263839
rs4263839
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
G 0.830 GeneticVariation GWASCAT Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. 18587394

2008

dbSNP: rs4979462
rs4979462
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.830 GeneticVariation GWASCAT POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. 30643196

2019

dbSNP: rs4979462
rs4979462
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
C 0.830 GeneticVariation GWASCAT A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. 28062665

2017

dbSNP: rs4979462
rs4979462
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
T 0.830 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012

dbSNP: rs6478109
rs6478109
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
G 0.830 GeneticVariation GWASCAT HLA-C*01 is a Risk Factor for Crohn's Disease. 26891255

2016

dbSNP: rs6478108
rs6478108
CUI: C0023343
Disease: Leprosy
Leprosy
A 0.810 GeneticVariation GWASCAT Genomewide association study of leprosy. 20018961

2009

dbSNP: rs4246905
rs4246905
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
T 0.800 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
G 0.800 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs4246905
rs4246905
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
C 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012

dbSNP: rs4246905
rs4246905
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
C 0.800 GeneticVariation GWASCAT Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. 21297633

2011

dbSNP: rs6478109
rs6478109
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.800 GeneticVariation GWASCAT Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease. 18758464

2008

dbSNP: rs7848647
rs7848647
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs7848647
rs7848647
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.710 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs7848647
rs7848647
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.710 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs4246905
rs4246905
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
Diabetes Mellitus, Insulin-Dependent
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs4246905
rs4246905
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015