| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
A | 0.810 | GeneticVariation | CLINVAR | ||||||||||
|
|
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 | 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 | 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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|
|
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 | Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. | 26179253 | 2015 |
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|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.810 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.710 | CausalMutation | CLINVAR | ||||||||||
|
|
A | 0.710 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
C | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||||||
|
|
T | 0.700 | CausalMutation | CLINVAR | Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. | 12690102 | 2003 |
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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 | 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 | Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. | 10903343 | 2000 |
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|
|
T | 0.700 | CausalMutation | 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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|
|
T | 0.700 | CausalMutation | CLINVAR | Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. | 17628007 | 2007 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | The second variant, detected in 10 obese subjects, predicted a previously identified arginine-to-glutamine substitution at codon 165, and the third variant, detected in one obese subject, predicted a novel glycine-to-serine substitution at codon 231. | 15448103 | 2004 |
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|
|
T | 0.700 | CausalMutation | CLINVAR | Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene. | 25332687 | 2014 |
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|
|
T | 0.700 | CausalMutation | CLINVAR |