Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10516487
rs10516487
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
G 0.880 GeneticVariation GWASCAT In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. 18204447

2008

dbSNP: rs10516487
rs10516487
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
G 0.880 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338

2015

dbSNP: rs17266594
rs17266594
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.850 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017

dbSNP: rs17031508
rs17031508
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.800 GeneticVariation GWASCAT Genome-wide linkage and association scans for pulse pressure in Chinese twins. 22763476

2012

dbSNP: rs13126505
rs13126505
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
A 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012

dbSNP: rs13126505
rs13126505
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs71597109
rs71597109
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
C 0.700 GeneticVariation GWASCAT Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. 28165464

2017

dbSNP: rs71597109
rs71597109
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
C 0.700 GeneticVariation GWASCAT Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. 28165464

2017

dbSNP: rs6846071
rs6846071
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
G 0.700 GeneticVariation GWASCAT Genetic associations with C-reactive protein level and white blood cell count in the KARE study. 22788528

2013

dbSNP: rs4637409
rs4637409
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
C 0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017

dbSNP: rs4426778
rs4426778
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 GeneticVariation GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469

2017

dbSNP: rs34592089
rs34592089
CUI: C0021704
Disease: Intelligence
Intelligence
A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018

dbSNP: rs34592089
rs34592089
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: rs34592089
rs34592089
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs34061204
rs34061204
Platelet mean volume determination (procedure)
CA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016

dbSNP: rs17248480
rs17248480
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
A 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418

2019

dbSNP: rs17248480
rs17248480
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018

dbSNP: rs17199964
rs17199964
CUI: C0021704
Disease: Intelligence
Intelligence
A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086

2018

dbSNP: rs17199964
rs17199964
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880

2018

dbSNP: rs17199964
rs17199964
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880

2018

dbSNP: rs17199964
rs17199964
CUI: C0021704
Disease: Intelligence
Intelligence
A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018

dbSNP: rs17199964
rs17199964
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: rs17199964
rs17199964
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880

2018

dbSNP: rs17199964
rs17199964
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 GeneticVariation GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880

2018

dbSNP: rs13127398
rs13127398
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019