Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
T | 0.800 | GeneticVariation | GWASCAT | Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. | 29212778 | 2018 | ||||||
|
|
|
0.800 | GeneticVariation | GWASDB | Large-scale association analysis identifies new risk loci for coronary artery disease. | 23202125 | 2013 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. | 20188343 | 2010 | |||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Genetic analyses of diverse populations improves discovery for complex traits. | 31217584 | 2019 | |||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Genetic analyses of diverse populations improves discovery for complex traits. | 31217584 | 2019 | |||||||
|
|
|
0.700 | GeneticVariation | GWASCAT | Characterizing rare and low-frequency height-associated variants in the Japanese population. | 31562340 | 2019 | |||||||
|
|
|
A | 0.700 | GeneticVariation | GWASCAT | Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. | 29212778 | 2018 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASCAT | Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. | 29212778 | 2018 | ||||||
|
|
|
A | 0.700 | GeneticVariation | GWASCAT | Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. | 28448500 | 2017 | ||||||
|
|
|
G | 0.700 | GeneticVariation | GWASCAT | Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. | 28270201 | 2017 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASCAT | Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. | 28552196 | 2017 | ||||||
|
|
|
A | 0.700 | GeneticVariation | GWASCAT | Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. | 25429064 | 2015 | ||||||
|
|
|
A | 0.700 | GeneticVariation | GWASCAT | Defining the role of common variation in the genomic and biological architecture of adult human height. | 25282103 | 2014 | ||||||
|
|
|
C | 0.700 | GeneticVariation | GWASCAT | Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). | 22021425 | 2012 | ||||||
|
|
|
C | 0.700 | GeneticVariation | GWASDB | Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). | 22021425 | 2012 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASDB | Hundreds of variants clustered in genomic loci and biological pathways affect human height. | 20881960 | 2010 | ||||||
|
|
|
T | 0.700 | GeneticVariation | GWASCAT | Hundreds of variants clustered in genomic loci and biological pathways affect human height. | 20881960 | 2010 | ||||||
|
|
|
GT | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.010 | GeneticVariation | BEFREE | We have identified an autosomal-recessive missense mutation (c.233T>C, p.Leu78Pro) in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype. | 20188343 | 2010 | |||||||
|
|
|
0.010 | GeneticVariation | BEFREE | We have identified an autosomal-recessive missense mutation (c.233T>C, p.Leu78Pro) in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype. | 20188343 | 2010 |