Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9999820
rs9999820
NPY2R
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		G 0.700 GeneticVariation GWASCAT A High-risk Haplotype for Premature Menopause in Childhood Cancer Survivors Exposed to Gonadotoxic Therapy. 29432556

2018
dbSNP: rs999944
rs999944
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		A 0.700 GeneticVariation GWASCAT Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. 26977737

2016
dbSNP: rs999943
rs999943
ITPR3
CUI: C0028754
Disease: Obesity
Obesity 		T 0.800 GeneticVariation GWASCAT Common body mass index-associated variants confer risk of extreme obesity. 19553259

2009
dbSNP: rs9999118
rs9999118
SPATA5
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		G 0.800 GeneticVariation GWASCAT Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome. 24797007

2014
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs9998368
rs9998368
STIM2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs9997790
rs9997790
DCK ; MOB1B
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs9997790
rs9997790
DCK ; MOB1B
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs9997649
rs9997649
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs999737
rs999737
RAD51B
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015
dbSNP: rs999737
rs999737
RAD51B
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017
dbSNP: rs999737
rs999737
RAD51B
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013
dbSNP: rs999737
rs999737
RAD51B
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		C 0.770 GeneticVariation GWASCAT A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). 19330030

2009
dbSNP: rs9996608
rs9996608
NAAA
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
dbSNP: rs9996452
rs9996452
CC2D2A
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs9995997
rs9995997
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: rs9995716
rs9995716
KLHL2P1
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: rs999556
rs999556
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		0.700 GeneticVariation GWASCAT A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. 23049088

2012
dbSNP: rs9995319
rs9995319
BBS7
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs9995034
rs9995034
LOC102724158
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs999494
rs999494
EMX1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260

2019
dbSNP: rs999494
rs999494
EMX1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		C 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256

2017
dbSNP: rs9994759
rs9994759
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: rs9994441
rs9994441
SH3RF1
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		C 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138

2016
dbSNP: rs9994216
rs9994216
SLC2A9
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019