| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.800 | GeneticVariation | UNIPROT | Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. | 24942156 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. | 20116044 | 2010 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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|
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 | ||||||
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C | 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 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. | 28232668 | 2017 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. | 28232668 | 2017 | ||||||
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0.700 | GeneticVariation | GWASCAT | Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. | 25574825 | 2015 | |||||||
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|
G | 0.700 | CausalMutation | CLINVAR | Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. | 26136524 | 2015 | ||||||
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C | 0.700 | GeneticVariation | GWASCAT | Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. | 25751624 | 2015 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. | 24942156 | 2014 | ||||||
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0.700 | GeneticVariation | GWASDB | A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. | 21980299 | 2011 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. | 20116044 | 2010 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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TG | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Here we show cell type-specific regulation of transcript levels of genes associated with several autoimmune diseases in CD4+ and CD8+ T cells including a trans-acting regulatory locus at chr12q13.2 containing the rs1131017 SNP in the RPS26 gene. | 28248954 | 2017 | |||||||
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0.010 | GeneticVariation | BEFREE | We identify one important ribosomal distribution effect, from rs1131017 in the 5'-untranslated region of RPS26, that is in high linkage disequilibrium with the 12q13 locus for susceptibility to type 1 diabetes. | 23900168 | 2013 |