Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1000708
rs1000708
SLC16A7
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		0.700 GeneticVariation GWASCAT Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. 30487263

2019
dbSNP: rs10007186
rs10007186
LINC01094
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018
dbSNP: rs1000791
rs1000791
RBFOX3
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Modulation of genetic associations with serum urate levels by body-mass-index in humans. 25811787

2015
dbSNP: rs10007975
rs10007975
C4orf17
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs10008032
rs10008032
LOC105374413
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011

2018
dbSNP: rs10008032
rs10008032
LOC105374413
CUI: C0004096
Disease: Asthma
Asthma 		0.700 GeneticVariation GWASCAT A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases. 29785011

2018
dbSNP: rs10008637
rs10008637
SHROOM3
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708

2019
dbSNP: rs10008637
rs10008637
SHROOM3
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		C 0.700 GeneticVariation GWASCAT Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. 27668658

2016
dbSNP: rs10009128
rs10009128
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: rs10009128
rs10009128
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
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: rs10009397
rs10009397
CUI: C0596887
Disease: mathematical ability
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018
dbSNP: rs1000940
rs1000940
NUP88 ; RABEP1
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722

2019
dbSNP: rs1000940
rs1000940
NUP88 ; RABEP1
CUI: C1305855
Disease: Body mass index
Body mass index 		A 0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971

2015
dbSNP: rs1000940
rs1000940
NUP88 ; RABEP1
CUI: C1305855
Disease: Body mass index
Body mass index 		G 0.700 GeneticVariation GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413

2015
dbSNP: rs10009409
rs10009409
LOC105377273 ; LOC107986286
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016

2018
dbSNP: rs10009409
rs10009409
LOC105377273 ; LOC107986286
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. 25217961

2014
dbSNP: rs10009715
rs10009715
LOC105377535
CUI: C0596887
Disease: mathematical ability
mathematical ability 		T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018
dbSNP: rs1000972
rs1000972
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1000972
rs1000972
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs1001007
rs1001007
CCR5AS
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		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: rs1001007
rs1001007
CCR5AS
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
dbSNP: rs1001007
rs1001007
CCR5AS
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: rs1001007
rs1001007
CCR5AS
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		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: rs1001007
rs1001007
CCR5AS
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: rs10010325
rs10010325
TET2 ; TET2-AS1
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