Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9790517
rs9790517
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.710 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs9790517
rs9790517
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
T 0.710 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs9790517
rs9790517
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.710 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015

dbSNP: rs9790517
rs9790517
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.710 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs974801
rs974801
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
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: rs6533181
rs6533181
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: rs62331150
rs62331150
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs2189234
rs2189234
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs2189234
rs2189234
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
A 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919

2015

dbSNP: rs2189234
rs2189234
CUI: C0005612
Disease: Birth Weight
Birth Weight
G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758

2019

dbSNP: rs10022109
rs10022109
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010

2018

dbSNP: rs4698934
rs4698934
CUI: C0025202
Disease: melanoma
melanoma
0.810 GeneticVariation GWASCAT The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014

dbSNP: rs4698934
rs4698934
CUI: C0025202
Disease: melanoma
melanoma
0.810 GeneticVariation GWASDB The SNP rs4698934 was nominally significantly associated with melanoma risk. 24980573

2014

dbSNP: rs771761785
rs771761785
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.700 GeneticVariation UNIPROT

dbSNP: rs7683416
rs7683416
CUI: C0021704
Disease: Intelligence
Intelligence
T 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566

2018

dbSNP: rs7683416
rs7683416
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: rs767475870
rs767475870
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
0.700 GeneticVariation UNIPROT

dbSNP: rs7674220
rs7674220
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203

2019

dbSNP: rs7674220
rs7674220
CUI: C0021704
Disease: Intelligence
Intelligence
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203

2019

dbSNP: rs754215085
rs754215085
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.700 GeneticVariation UNIPROT

dbSNP: rs749210253
rs749210253
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.700 GeneticVariation UNIPROT

dbSNP: rs6855629
rs6855629
CUI: C0005890
Disease: Body Height
Body Height
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607

2013

dbSNP: rs6855629
rs6855629
CUI: C0489786
Disease: Height
Height
G 0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. 23563607

2013

dbSNP: rs6839705
rs6839705
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: rs6533183
rs6533183
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
T 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560

2019