| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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A | 0.810 | GeneticVariation | CLINVAR | ||||||||||
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T | 0.810 | CausalMutation | CLINVAR | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | ||||||||||
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C | 0.800 | GeneticVariation | CLINVAR | Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. | 26179253 | 2015 |
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C | 0.800 | GeneticVariation | CLINVAR | High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. | 22463805 | 2012 |
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C | 0.800 | GeneticVariation | CLINVAR | We have studied the intracellular localization of four obesity-linked MC4R variants, P78L, R165W, I316S, and I317T, in immortalized neurons. | 20631012 | 2010 |
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C | 0.800 | GeneticVariation | CLINVAR | Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. | 12646665 | 2003 |
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C | 0.800 | GeneticVariation | CLINVAR | Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. | 12588803 | 2003 |
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A | 0.710 | CausalMutation | CLINVAR | ||||||||||
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T | 0.710 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children. | 20966905 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. | 19091795 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. | 18801902 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. | 19301229 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. | 18559663 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. | 16507637 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Obesity-associated mutations in the human melanocortin-4 receptor gene. | 16274851 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. | 15486053 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. | 12646665 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. | 12970296 | 2003 |
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T | 0.700 | CausalMutation | CLINVAR | In both of these cases Tyr-35-Stop and Asp-37-Val were maternally transmitted, thus these variations form a haplotype. d) e) A male obese proband harbored two missense mutations (Ser-30-Phe, Gly-252-Ser). f)-i) Four different missense mutations (Pro-78-Leu, Thr-112-Met, Arg-165-Trp, Ile-317-Thr) were detected in four different male probands, respectively. | 10199800 | 1999 |
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G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GCA | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR |